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rs149330893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs149330893(C;T)
Make rs149330893(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32340783
GeneBRCA2
is asnp
is mentioned by
dbSNPrs149330893
dbSNP (classic)rs149330893
ClinGenrs149330893
ebirs149330893
HLIrs149330893
Exacrs149330893
Gnomadrs149330893
Varsomers149330893
LitVarrs149330893
Maprs149330893
PheGenIrs149330893
Biobankrs149330893
1000 genomesrs149330893
hgdprs149330893
ensemblrs149330893
geneviewrs149330893
scholarrs149330893
googlers149330893
pharmgkbrs149330893
gwascentralrs149330893
openSNPrs149330893
23andMers149330893
SNPshotrs149330893
SNPdbers149330893
MSV3drs149330893
GWAS Ctlgrs149330893
Max Magnitude6
ClinVar
Risk rs149330893(A;A) rs149330893(G;G) rs149330893(T;T)
Alt rs149330893(A;A) rs149330893(G;G) rs149330893(T;T)
Reference Rs149330893(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914920C>A; NC_000013.10:g.32914920C>G; NC_000013.10:g.32914920C>T
CLNSRC
CLNACC RCV000230879.1, RCV000241501.1, RCV000257829.2, RCV000130744.2,