Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: CFAP57 (Hsa)
(GRCh38)1:43181758C>T
(Homo sapiens)Allele/Variant
Source: rs143229697
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181758C>T
(GRCh38)1:43181780A>G
(Homo sapiens)Allele/Variant
Source: rs372731177
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181780A>G
(GRCh38)1:43183657C>T
(Homo sapiens)Allele/Variant
Source: rs746402770
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183657C>T
(GRCh38)1:43183766C>G
(Homo sapiens)Allele/Variant
Source: rs769255988
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183766C>G
(GRCh38)1:43185227G>A
(Homo sapiens)Allele/Variant
Source: rs769471878
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185227G>A
(GRCh38)1:43197582G>A
(Homo sapiens)Allele/Variant
Source: rs902787951
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43197582G>A
(GRCh38)1:43209807G>A
(Homo sapiens)Allele/Variant
Source: rs200705222
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209807G>A
(GRCh38)1:43215266C>T
(Homo sapiens)Allele/Variant
Source: rs541310801
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43215266C>T
(GRCh38)1:43209777A>T
(Homo sapiens)Allele/Variant
Source: rs745900192
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209777A>T
(GRCh38)1:43209965C>T
(Homo sapiens)Allele/Variant
Source: rs144649635
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209965C>T
(GRCh38)1:43186846C>T
(Homo sapiens)Allele/Variant
Source: rs370557614
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43186846C>T
(GRCh38)1:43197606C>T
(Homo sapiens)Allele/Variant
Source: rs117105091
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43197606C>T
(GRCh38)1:43199405G>A
(Homo sapiens)Allele/Variant
Source: rs267598610
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43199405G>A
(GRCh38)1:43183724A>G
(Homo sapiens)Allele/Variant
Source: rs751358929
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183724A>G
(GRCh38)1:43183705C>A
(Homo sapiens)Allele/Variant
Source: rs568075586
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183705C>A
(GRCh38)1:43209746C>T
(Homo sapiens)Allele/Variant
Source: rs267598611
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209746C>T
(GRCh38)1:43206805C>G
(Homo sapiens)Allele/Variant
Source: rs368831017
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43206805C>G
(GRCh38)1:43185336C>T
(Homo sapiens)Allele/Variant
Source: rs769072613
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185336C>T
(GRCh38)1:43186797G>T
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43186797G>T
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43186797G>T
(GRCh38)1:43199500G>A
(Homo sapiens)Allele/Variant
Source: rs151207529
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43199500G>A
(GRCh38)1:43181582G>A
(Homo sapiens)Allele/Variant
Source: rs201770048
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181582G>A
(GRCh38)1:43183711A>C
(Homo sapiens)Allele/Variant
Source: rs530816090
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183711A>C
(GRCh38)1:43183705C>T
(Homo sapiens)Allele/Variant
Source: rs568075586
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183705C>T
(GRCh38)1:43199453A>G
(Homo sapiens)Allele/Variant
Source: rs776009936
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43199453A>G
(GRCh38)1:43181681A>G
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43181681A>G
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181681A>G
(GRCh38)1:43185326G>A
(Homo sapiens)Allele/Variant
Source: rs267598609
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185326G>A
(GRCh38)1:43181648C>G
(Homo sapiens)Allele/Variant
Source: rs117288508
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181648C>G
(GRCh38)1:43183621G>A
(Homo sapiens)Allele/Variant
Source: rs767278420
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183621G>A
(GRCh38)1:43183673C>G
(Homo sapiens)Allele/Variant
Source: rs528534402
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183673C>G
(GRCh38)1:43206903C>T
(Homo sapiens)Allele/Variant
Source: rs137936405
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43206903C>T
(GRCh38)1:43172908C>T
(Homo sapiens)Allele/Variant
Source: rs768503215
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43172908C>T
(GRCh38)1:43181575C>A
(Homo sapiens)Allele/Variant
Source: rs200345375
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181575C>A
(GRCh38)1:43181810C>T
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43181810C>T
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43181810C>T
(GRCh38)1:43185164A>G
(Homo sapiens)Allele/Variant
Source: rs140557499
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185164A>G
(GRCh38)1:43206870G>A
(Homo sapiens)Allele/Variant
Source: rs141144474
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43206870G>A
(GRCh38)1:43185353C>G
(Homo sapiens)Allele/Variant
Source: rs74857529
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185353C>G
(GRCh38)1:43197610G>A
(Homo sapiens)Allele/Variant
Source: rs371546643
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43197610G>A
(GRCh38)1:43206744G>T
(Homo sapiens)Allele/Variant
Source: rs387907122
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43206744G>T
(GRCh38)1:43227015T>C
(Homo sapiens)Allele/Variant
Source: rs540417591
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43227015T>C
(GRCh38)1:43227018A>G
(Homo sapiens)Allele/Variant
Source: rs995524509
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43227018A>G
(GRCh38)1:43209966G>A
(Homo sapiens)Allele/Variant
Source: rs184767321
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209966G>A
(GRCh38)1:43234551G>A
(Homo sapiens)Allele/Variant
Source: rs544184490
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43234551G>A
(GRCh38)1:43186812A>G
(Homo sapiens)Allele/Variant
Source: rs532399984
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43186812A>G
(GRCh38)1:43210047A>G
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43210047A>G
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43210047A>G
(GRCh38)1:43185366G>A
(Homo sapiens)Allele/Variant
Source: rs202232057
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43185366G>A
(GRCh38)1:43209992C>A
(Homo sapiens)Allele/Variant
Source: rs267598612
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43209992C>A
(GRCh38)1:43183637A>G
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43183637A>G
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43183637A>G
(GRCh38)1:43206927T>G
(Homo sapiens)Allele/Variant
Source: NC_000001.11:g.43206927T>G
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43206927T>G
(GRCh38)1:43234540C>T
(Homo sapiens)Allele/Variant
Source: rs199613598
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43234540C>T
(GRCh38)1:43172417T>C
(Homo sapiens)Allele/Variant
Source: rs781669513
Genes: EBNA1BP2 (Hsa), CFAP57 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)1:43172417T>C