Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: BRCA1 (Hsa)
(GRCh38)17:43045708C>G
(Homo sapiens)Allele/Variant
Source: rs786201648
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045708C>G
(GRCh38)17:43045697A>T
(Homo sapiens)Allele/Variant
Source: rs755427809
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045697A>T
(GRCh38)17:43045698T>A
(Homo sapiens)Allele/Variant
Source: rs765656957
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045698T>A
(GRCh38)17:43045709A>C
(Homo sapiens)Allele/Variant
Source: rs80356996
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045709A>C
(GRCh38)17:43045712T>A
(Homo sapiens)Allele/Variant
Source: rs80357258
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045712T>A
(GRCh38)17:43045712T>G
(Homo sapiens)Allele/Variant
Source: rs80357258
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045712T>G
(GRCh38)17:43045714G>C
(Homo sapiens)Allele/Variant
Source: rs80356841
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045714G>C
(GRCh38)17:43045717G>C
(Homo sapiens)Allele/Variant
Source: rs80357326
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045717G>C
(GRCh38)17:43045807A>G
(Homo sapiens)Allele/Variant
Source: rs730881498
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045807A>G
(GRCh38)17:43045810C>G
(Homo sapiens)Allele/Variant
Source: rs1597797270
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045810C>G
(GRCh38)17:43045664G>C
(Homo sapiens)Allele/Variant
Source: rs1064796142
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045664G>C
(GRCh38)17:43045671G>C
(Homo sapiens)Allele/Variant
Source: rs2050851767
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045671G>C
(GRCh38)17:43045801T>A
(Homo sapiens)Allele/Variant
Source: rs1597797238
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045801T>A
(GRCh38)17:43045812G>C
(Homo sapiens)Allele/Variant
Source: rs8176316
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045812G>C
(GRCh38)17:43045750G>T
(Homo sapiens)Allele/Variant
Source: rs2050873874
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045750G>T
(GRCh38)17:43047624G>T
(Homo sapiens)Allele/Variant
Source: rs2050971735
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047624G>T
(GRCh38)17:43047638C>G
(Homo sapiens)Allele/Variant
Source: rs397509287
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047638C>G
(GRCh38)17:43045752C>G
(Homo sapiens)Allele/Variant
Source: rs1567756588
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045752C>G
(GRCh38)17:43045752C>A
(Homo sapiens)Allele/Variant
Source: rs1597796956
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045752C>A
(GRCh38)17:43045738G>A
(Homo sapiens)Allele/Variant
Source: rs80356829
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045738G>A
(GRCh38)17:43045800T>C
(Homo sapiens)Allele/Variant
Source: rs587782026
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045800T>C
(GRCh38)17:43045802G>C
(Homo sapiens)Allele/Variant
Source: rs765681061
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045802G>C
(GRCh38)17:43045810C>T
(Homo sapiens)Allele/Variant
Source: rs1597797270
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045810C>T
(GRCh38)17:43047622A>G
(Homo sapiens)Allele/Variant
Source: rs2050971311
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047622A>G
(GRCh38)17:43047634G>C
(Homo sapiens)Allele/Variant
Source: rs80358031
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047634G>C
(GRCh38)17:43047634G>T
(Homo sapiens)Allele/Variant
Source: rs80358031
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047634G>T
(GRCh38)17:43047645T>A
(Homo sapiens)Allele/Variant
Source: rs273902769
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047645T>A
(GRCh38)17:43045732C>A
(Homo sapiens)Allele/Variant
Source: rs80356849
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045732C>A
(GRCh38)17:43047647G>C
(Homo sapiens)Allele/Variant
Source: rs2050977262
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047647G>C
(GRCh38)17:43045768G>A
(Homo sapiens)Allele/Variant
Source: rs1057520459
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045768G>A
(GRCh38)17:43045656C>G
(Homo sapiens)Allele/Variant
Source: rs1346384762
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045656C>G
(GRCh38)17:43045675C>A
(Homo sapiens)Allele/Variant
Source: rs1057521525
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045675C>A
(GRCh38)17:43045679C>T
(Homo sapiens)Allele/Variant
Source: rs2050852399
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_retained_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045679C>T
(GRCh38)17:43045684G>T
(Homo sapiens)Allele/Variant
Source: NC_000017.11:g.43045684G>T
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045684G>T
(GRCh38)17:43045705T>C
(Homo sapiens)Allele/Variant
Source: rs758449088
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045705T>C
(GRCh38)17:43045695G>A
(Homo sapiens)Allele/Variant
Source: rs1555574342
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045695G>A
(GRCh38)17:43045697A>G
(Homo sapiens)Allele/Variant
Source: rs755427809
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045697A>G
(GRCh38)17:43045722G>A
(Homo sapiens)Allele/Variant
Source: rs2050863835
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045722G>A
(GRCh38)17:43045808G>A
(Homo sapiens)Allele/Variant
Source: rs2050891161
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045808G>A
(GRCh38)17:43045814G>T
(Homo sapiens)Allele/Variant
Source: NC_000017.11:g.43045814G>T
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045814G>T
(GRCh38)17:43047621C>G
(Homo sapiens)Allele/Variant
Source: rs779046757
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047621C>G
(GRCh38)17:43047630G>C
(Homo sapiens)Allele/Variant
Source: rs2050972801
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047630G>C
(GRCh38)17:43045804T>G
(Homo sapiens)Allele/Variant
Source: rs398122699
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, splice_acceptor_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045804T>G
(GRCh38)17:43045805G>A
(Homo sapiens)Allele/Variant
Source: rs1567756806
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045805G>A
(GRCh38)17:43045752C>T
(Homo sapiens)Allele/Variant
Source: rs1567756588
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045752C>T
(GRCh38)17:43047640T>G
(Homo sapiens)Allele/Variant
Source: rs431825417
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047640T>G
(GRCh38)17:43045762C>G
(Homo sapiens)Allele/Variant
Source: rs2050877902
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045762C>G
(GRCh38)17:43047645T>A
(Homo sapiens)Allele/Variant
Source: rs2050976068
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047645T>A
(GRCh38)17:43045744T>A
(Homo sapiens)Allele/Variant
Source: rs1555574397
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045744T>A
(GRCh38)17:43045745A>T
(Homo sapiens)Allele/Variant
Source: rs1555574400
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, 3_prime_UTR_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045745A>T