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rs273900710

From SNPedia

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


Make rs273900710(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091950
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900710
ebirs273900710
HLIrs273900710
Exacrs273900710
Varsomers273900710
Maprs273900710
PheGenIrs273900710
hapmaprs273900710
1000 genomesrs273900710
hgdprs273900710
ensemblrs273900710
gopubmedrs273900710
geneviewrs273900710
scholarrs273900710
googlers273900710
pharmgkbrs273900710
gwascentralrs273900710
openSNPrs273900710
23andMers273900710
23andMe allrs273900710
SNP Nexus

SNPshotrs273900710
SNPdbers273900710
MSV3drs273900710
GWAS Ctlgrs273900710
Max Magnitude6
rs273900710, also known as 3700delC, c.3581_3581delC and p.Thr1194=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900710(;)
Alt rs273900710(;)
Reference rs273900710(C;C)
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.41243965delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048239.2, RCV000112123.1,