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rs273902791

From SNPedia

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


Make rs273902791(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115781
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273902791
dbSNP (classic)rs273902791
ClinGenrs273902791
ebirs273902791
HLIrs273902791
Exacrs273902791
Gnomadrs273902791
Varsomers273902791
LitVarrs273902791
Maprs273902791
PheGenIrs273902791
Biobankrs273902791
1000 genomesrs273902791
hgdprs273902791
ensemblrs273902791
geneviewrs273902791
scholarrs273902791
googlers273902791
pharmgkbrs273902791
gwascentralrs273902791
openSNPrs273902791
23andMers273902791
SNPshotrs273902791
SNPdbers273902791
MSV3drs273902791
GWAS Ctlgrs273902791
Max Magnitude6

BRCA1, c.81-2delA

ClinVar
Risk rs273902791(-;-)
Alt rs273902791(-;-)
Reference Rs273902791(A;A)
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.41267798delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049150.2, RCV000111716.1,