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

rs80357212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 BRCA1 variant of unclear significance
(G;G) 0 common in clinvar


Make rs80357212(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047643
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357212
ebirs80357212
HLIrs80357212
Exacrs80357212
Varsomers80357212
Maprs80357212
PheGenIrs80357212
hapmaprs80357212
1000 genomesrs80357212
hgdprs80357212
ensemblrs80357212
gopubmedrs80357212
geneviewrs80357212
scholarrs80357212
googlers80357212
pharmgkbrs80357212
gwascentralrs80357212
openSNPrs80357212
23andMers80357212
23andMe allrs80357212
SNP Nexus

SNPshotrs80357212
SNPdbers80357212
MSV3drs80357212
GWAS Ctlgrs80357212
Max Magnitude3

c.5467G>A (p.Ala1823Thr)

clinical significance indicated in ClinVar as unknown


ClinVar
Risk rs80357212(A;A)
Alt rs80357212(A;A)
Reference rs80357212(G;G)
Significance Untested
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41199660C>T
CLNSRC ClinVar
CLNACC RCV000049006.2, RCV000112662.1,