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rs80359281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359281(-;-)
Make rs80359281(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332799
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359281
ebirs80359281
HLIrs80359281
Exacrs80359281
Varsomers80359281
Maprs80359281
PheGenIrs80359281
hapmaprs80359281
1000 genomesrs80359281
hgdprs80359281
ensemblrs80359281
gopubmedrs80359281
geneviewrs80359281
scholarrs80359281
googlers80359281
pharmgkbrs80359281
gwascentralrs80359281
openSNPrs80359281
23andMers80359281
23andMe allrs80359281
SNP Nexus

SNPshotrs80359281
SNPdbers80359281
MSV3drs80359281
GWAS Ctlgrs80359281
Max Magnitude6
rs80359281, also known as 1549insA, c.1321_1322insA and p.Thr441?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359281(A;A)
Alt rs80359281(A;A)
Reference rs80359281(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906936dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000049218.2, RCV000112908.1,