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rs273901751

From SNPedia

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


Make rs273901751(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063331
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273901751
ClinGenrs273901751
ebirs273901751
HLIrs273901751
Exacrs273901751
Varsomers273901751
Maprs273901751
PheGenIrs273901751
hapmaprs273901751
1000 genomesrs273901751
hgdprs273901751
ensemblrs273901751
gopubmedrs273901751
geneviewrs273901751
scholarrs273901751
googlers273901751
pharmgkbrs273901751
gwascentralrs273901751
openSNPrs273901751
23andMers273901751
23andMe allrs273901751
SNP Nexus

SNPshotrs273901751
SNPdbers273901751
MSV3drs273901751
GWAS Ctlgrs273901751
Max Magnitude6

BRCA1, c.5193+2delT

ClinVar
Risk rs273901751(-;-)
Alt rs273901751(-;-)
Reference Rs273901751(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41215348delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048850.2, RCV000083219.3, RCV000217180.1,