Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359180(C;G)
Make rs80359180(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380085
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359180
ebirs80359180
HLIrs80359180
Exacrs80359180
Varsomers80359180
Maprs80359180
PheGenIrs80359180
hapmaprs80359180
1000 genomesrs80359180
hgdprs80359180
ensemblrs80359180
gopubmedrs80359180
geneviewrs80359180
scholarrs80359180
googlers80359180
pharmgkbrs80359180
gwascentralrs80359180
openSNPrs80359180
23andMers80359180
23andMe allrs80359180
SNP Nexus

SNPshotrs80359180
SNPdbers80359180
MSV3drs80359180
GWAS Ctlgrs80359180
Max Magnitude6
rs80359180, also known as Q3066X, c.9196C>T and p.Gln3066Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
OMIM600185
Desc
Variant0032
Relatedalso
ClinVar
Risk rs80359180(A,G,T;A,G,T)
Alt rs80359180(A,G,T;A,G,T)
Reference rs80359180(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Fanconi anemia Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Fanconi anemia, complementation group D1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 0
HGVS NC_000013.10:g.32954222C>A; NC_000013.10:g.32954222C>G; NC_000013.10:g.32954222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000233608.1, RCV000045744.2, RCV000114064.1, RCV000009941.4, RCV000045745.2, RCV000077463.6, RCV000131052.2, RCV000210196.1, RCV000235644.1,