Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: BRCA1 (Hsa) Molecular Consequence: intron variant
(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)17:43045804T>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)17:43045752C>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)17:43045664G>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)17:43045750G>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)17:43045752C>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)17:43045742G>A
(Homo sapiens)Allele/Variant
Source: rs730881447
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)17:43045742G>A
(GRCh38)17:43045770T>A
(Homo sapiens)Allele/Variant
Source: rs2050880456
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)17:43045770T>A
(GRCh38)17:43045771C>G
(Homo sapiens)Allele/Variant
Source: rs2050880700
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)17:43045771C>G
(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)17:43047645T>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)17:43047650G>C
(Homo sapiens)Allele/Variant
Source: rs2050978337
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047650G>C
(GRCh38)17:43045743C>T
(Homo sapiens)Allele/Variant
Source: rs80357019
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)17:43045743C>T
(GRCh38)17:43047655T>A
(Homo sapiens)Allele/Variant
Source: rs2050979993
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047655T>A
(GRCh38)17:43047658C>A
(Homo sapiens)Allele/Variant
Source: rs2050981068
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047658C>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)17:43045798A>C
(Homo sapiens)Allele/Variant
Source: rs2050888912
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045798A>C
(GRCh38)17:43045799A>C
(Homo sapiens)Allele/Variant
Source: rs1301025671
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43045799A>C
(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
(GRCh38)17:43045746C>A
(Homo sapiens)Allele/Variant
Source: rs1296005499
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)17:43045746C>A
(GRCh38)17:43047653A>C
(Homo sapiens)Allele/Variant
Source: rs1597799334
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047653A>C
(GRCh38)17:43047657T>A
(Homo sapiens)Allele/Variant
Source: rs80357477
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047657T>A
(GRCh38)17:43047657T>C
(Homo sapiens)Allele/Variant
Source: rs80357477
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047657T>C
(GRCh38)17:43047699A>C
(Homo sapiens)Allele/Variant
Source: rs80356920
Genes: BRCA1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)17:43047699A>C
(GRCh38)17:43047703C>A
(Homo sapiens)Allele/Variant
Source: rs876659510
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)17:43047703C>A