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rs80359770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359770(-;-)
Make rs80359770(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332434
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359770
ebirs80359770
HLIrs80359770
Exacrs80359770
Varsomers80359770
Maprs80359770
PheGenIrs80359770
hapmaprs80359770
1000 genomesrs80359770
hgdprs80359770
ensemblrs80359770
gopubmedrs80359770
geneviewrs80359770
scholarrs80359770
googlers80359770
pharmgkbrs80359770
gwascentralrs80359770
openSNPrs80359770
23andMers80359770
23andMe allrs80359770
SNP Nexus

SNPshotrs80359770
SNPdbers80359770
MSV3drs80359770
GWAS Ctlgrs80359770
Max Magnitude6
rs80359770, also known as 1184insA, c.956_957insA and p.Asn319?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359770(A;A)
Alt rs80359770(A;A)
Reference rs80359770(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32906571dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045857.2, RCV000077045.4, RCV000166558.1, RCV000213917.1,