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rs80359418

From SNPedia

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


Make rs80359418(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316463
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359418
ebirs80359418
HLIrs80359418
Exacrs80359418
Varsomers80359418
Maprs80359418
PheGenIrs80359418
hapmaprs80359418
1000 genomesrs80359418
hgdprs80359418
ensemblrs80359418
gopubmedrs80359418
geneviewrs80359418
scholarrs80359418
googlers80359418
pharmgkbrs80359418
gwascentralrs80359418
openSNPrs80359418
23andMers80359418
23andMe allrs80359418
SNP Nexus

SNPshotrs80359418
SNPdbers80359418
MSV3drs80359418
GWAS Ctlgrs80359418
Max Magnitude6
rs80359418, also known as 231delG, c.3_3delG and p.Met1Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359418(;)
Alt rs80359418(;)
Reference rs80359418(G;G)
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.32890600delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031453.4, RCV000044329.2,