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rs80359318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359318(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336391
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359318
ebirs80359318
HLIrs80359318
Exacrs80359318
Varsomers80359318
Maprs80359318
PheGenIrs80359318
hapmaprs80359318
1000 genomesrs80359318
hgdprs80359318
ensemblrs80359318
gopubmedrs80359318
geneviewrs80359318
scholarrs80359318
googlers80359318
pharmgkbrs80359318
gwascentralrs80359318
openSNPrs80359318
23andMers80359318
23andMe allrs80359318
SNP Nexus

SNPshotrs80359318
SNPdbers80359318
MSV3drs80359318
GWAS Ctlgrs80359318
Max Magnitude6
rs80359318, also known as 2264delA, c.2036_2036delA and p.Asn679Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359318(;)
Alt rs80359318(;)
Reference rs80359318(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32910528delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031354.4, RCV000043937.2,