Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: LARGE1 (Hsa)
(GRCh38)22:33276908C>T
(Homo sapiens)Allele/Variant
Source: rs2075921
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33276908C>T
(GRCh38)22:33283358G>A
(Homo sapiens)Allele/Variant
Source: rs772579469
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283358G>A
(GRCh38)22:33304520G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33304520G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304520G>A
(GRCh38)22:33316260G>C
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33316260G>C
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33316260G>C
(GRCh38)22:33920106C>T
(Homo sapiens)Allele/Variant
Source: rs530725597
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33920106C>T
(GRCh38)22:33274722C>G
(Homo sapiens)Allele/Variant
Source: rs41282599
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33274722C>G
(GRCh38)22:33632695A>G
(Homo sapiens)Allele/Variant
Source: rs207477966
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33632695A>G
(GRCh38)22:33650349G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33650349G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33650349G>A
(GRCh38)22:33761523G>A
(Homo sapiens)Allele/Variant
Source: rs775356534
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33761523G>A
(GRCh38)22:33274442G>T
(Homo sapiens)Allele/Variant
Source: rs114246562
Genes: LARGE1 (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)22:33274442G>T
(GRCh38)22:33920183C>T
(Homo sapiens)Allele/Variant
Source: rs185068235
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33920183C>T
(GRCh38)22:33856557G>A
(Homo sapiens)Allele/Variant
Source: rs2277840
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33856557G>A
(GRCh38)22:33856861T>C
(Homo sapiens)Allele/Variant
Source: rs148432069
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33856861T>C
(GRCh38)22:33920392G>A
(Homo sapiens)Allele/Variant
Source: rs886057469
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33920392G>A
(GRCh38)22:33283258G>C
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33283258G>C
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283258G>C
(GRCh38)22:33277167C>T
(Homo sapiens)Allele/Variant
Source: rs747883942
Genes: LARGE1 (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)22:33277167C>T
(GRCh38)22:33277142C>G
(Homo sapiens)Allele/Variant
Source: rs1929475941
Genes: LARGE1 (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)22:33277142C>G
(GRCh38)22:33304303C>G
(Homo sapiens)Allele/Variant
Source: rs138573955
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304303C>G
(GRCh38)22:33304315G>A
(Homo sapiens)Allele/Variant
Source: rs113253213
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304315G>A
(GRCh38)22:33304342C>T
(Homo sapiens)Allele/Variant
Source: rs2146164178
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304342C>T
(GRCh38)22:33274436G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33274436G>A
Genes: LARGE1 (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)22:33274436G>A
(GRCh38)22:33337708C>T
(Homo sapiens)Allele/Variant
Source: rs1555898776
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337708C>T
(GRCh38)22:33337763C>T
(Homo sapiens)Allele/Variant
Source: rs1397764397
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337763C>T
(GRCh38)22:33337654T>C
(Homo sapiens)Allele/Variant
Source: rs1938625368
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337654T>C
(GRCh38)22:33384195G>T
(Homo sapiens)Allele/Variant
Source: rs2147134497
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384195G>T
(GRCh38)22:33384320G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33384320G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384320G>A
(GRCh38)22:33384323T>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33384323T>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384323T>A
(GRCh38)22:33564906C>T
(Homo sapiens)Allele/Variant
Source: rs1176140640
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33564906C>T
(GRCh38)22:33432330T>C
(Homo sapiens)Allele/Variant
Source: rs80069366
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432330T>C
(GRCh38)22:33432446C>T
(Homo sapiens)Allele/Variant
Source: rs73166278
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432446C>T
(GRCh38)22:33920439G>A
(Homo sapiens)Allele/Variant
Source: rs956387343
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33920439G>A
(GRCh38)22:33274427C>T
(Homo sapiens)Allele/Variant
Source: rs780752716
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_retained_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33274427C>T
(GRCh38)22:33274611A>G
(Homo sapiens)Allele/Variant
Source: rs200212868
Genes: LARGE1 (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)22:33274611A>G
(GRCh38)22:33283318G>A
(Homo sapiens)Allele/Variant
Source: rs750342837
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283318G>A
(GRCh38)22:33304462G>C
(Homo sapiens)Allele/Variant
Source: rs769790373
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304462G>C
(GRCh38)22:33304472T>C
(Homo sapiens)Allele/Variant
Source: rs979365377
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304472T>C
(GRCh38)22:33304476A>G
(Homo sapiens)Allele/Variant
Source: rs267607209
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304476A>G
(GRCh38)22:33337737T>G
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33337737T>G
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337737T>G
(GRCh38)22:33337748C>T
(Homo sapiens)Allele/Variant
Source: rs1431706655
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337748C>T
(GRCh38)22:33337661A>G
(Homo sapiens)Allele/Variant
Source: rs1467552697
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337661A>G
(GRCh38)22:33274538G>A
(Homo sapiens)Allele/Variant
Source: rs1456360427
Genes: LARGE1 (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)22:33274538G>A
(GRCh38)22:33274556A>G
(Homo sapiens)Allele/Variant
Source: rs1358320451
Genes: LARGE1 (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)22:33274556A>G
(GRCh38)22:33277200C>T
(Homo sapiens)Allele/Variant
Source: rs759095312
Genes: LARGE1 (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)22:33277200C>T
(GRCh38)22:33283228C>T
(Homo sapiens)Allele/Variant
Source: rs1930809621
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283228C>T
(GRCh38)22:33277206G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33277206G>A
Genes: LARGE1 (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)22:33277206G>A
(GRCh38)22:33277099G>C
(Homo sapiens)Allele/Variant
Source: rs766086770
Genes: LARGE1 (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)22:33277099G>C
(GRCh38)22:33304366G>A
(Homo sapiens)Allele/Variant
Source: rs1001705325
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304366G>A
(GRCh38)22:33304373A>G
(Homo sapiens)Allele/Variant
Source: rs2146164640
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304373A>G
(GRCh38)22:33304254T>C
(Homo sapiens)Allele/Variant
Source: rs1208818239
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304254T>C
(GRCh38)22:33304274G>A
(Homo sapiens)Allele/Variant
Source: rs2146163397
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304274G>A