Have questions? Visit https://www.reddit.com/r/SNPedia

rs273899701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(G;CC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273899701(CC;G)
Make rs273899701(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092342
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273899701
ebirs273899701
HLIrs273899701
Exacrs273899701
Varsomers273899701
Maprs273899701
PheGenIrs273899701
hapmaprs273899701
1000 genomesrs273899701
hgdprs273899701
ensemblrs273899701
gopubmedrs273899701
geneviewrs273899701
scholarrs273899701
googlers273899701
pharmgkbrs273899701
gwascentralrs273899701
openSNPrs273899701
23andMers273899701
23andMe allrs273899701
SNP Nexus

SNPshotrs273899701
SNPdbers273899701
MSV3drs273899701
GWAS Ctlgrs273899701
Max Magnitude6
rs273899701, also known as 3307delCCinsG, c.3188_3189delCCinsG and p.Ser1063Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273899701(G;G)
Alt rs273899701(G;G)
Reference rs273899701(CC;CC)
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.41244359_41244360delGGinsC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048097.2, RCV000112014.1,