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rs273902775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;GGTGACCCGAG) 6 BRCA1 variant considered pathogenic for breast cancer
(GGTGACCCGAG;GGTGACCCGAG) 0 common in clinvar


Make rs273902775(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045764
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273902775
ebirs273902775
HLIrs273902775
Exacrs273902775
Varsomers273902775
Maprs273902775
PheGenIrs273902775
hapmaprs273902775
1000 genomesrs273902775
hgdprs273902775
ensemblrs273902775
gopubmedrs273902775
geneviewrs273902775
scholarrs273902775
googlers273902775
pharmgkbrs273902775
gwascentralrs273902775
openSNPrs273902775
23andMers273902775
23andMe allrs273902775
SNP Nexus

SNPshotrs273902775
SNPdbers273902775
MSV3drs273902775
GWAS Ctlgrs273902775
Max Magnitude6

c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)

ClinVar designates this as pathogenic for breast cancer

ClinVar
Risk rs273902775(A;A)
Alt rs273902775(A;A)
Reference rs273902775(GGTGACCCGAG;GGTGACCCGAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197781_41197791delCTCGGGTCACCinsT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049016.2, RCV000112681.1,