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rs145988146

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
(C;T) 1 benign
Make rs145988146(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319282
GeneBRCA2
is asnp
is mentioned by
dbSNPrs145988146
dbSNP (classic)rs145988146
ClinGenrs145988146
ebirs145988146
HLIrs145988146
Exacrs145988146
Gnomadrs145988146
Varsomers145988146
LitVarrs145988146
Maprs145988146
PheGenIrs145988146
Biobankrs145988146
1000 genomesrs145988146
hgdprs145988146
ensemblrs145988146
geneviewrs145988146
scholarrs145988146
googlers145988146
pharmgkbrs145988146
gwascentralrs145988146
openSNPrs145988146
23andMers145988146
SNPshotrs145988146
SNPdbers145988146
MSV3drs145988146
GWAS Ctlgrs145988146
Max Magnitude6
ClinVar
Risk rs145988146(A;A) rs145988146(G;G) rs145988146(T;T)
Alt rs145988146(A;A) rs145988146(G;G) rs145988146(T;T)
Reference Rs145988146(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified
Reversed 0
HGVS NC_000013.10:g.32893419C>A; NC_000013.10:g.32893419C>G; NC_000013.10:g.32893419C>T
CLNSRC ClinVar
CLNACC RCV000044045.2, RCV000241355.2, RCV000044046.2, RCV000257002.2, RCV000164459.1, RCV000204240.3, RCV000444330.1,