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rs80357276

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80357276(A;G)
Make rs80357276(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115738
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357276
ebirs80357276
HLIrs80357276
Exacrs80357276
Varsomers80357276
Maprs80357276
PheGenIrs80357276
hapmaprs80357276
1000 genomesrs80357276
hgdprs80357276
ensemblrs80357276
gopubmedrs80357276
geneviewrs80357276
scholarrs80357276
googlers80357276
pharmgkbrs80357276
gwascentralrs80357276
openSNPrs80357276
23andMers80357276
23andMe allrs80357276
SNP Nexus

SNPshotrs80357276
SNPdbers80357276
MSV3drs80357276
GWAS Ctlgrs80357276
Max Magnitude0
ClinVar
Risk rs80357276(G,T;G,T)
Alt rs80357276(G,T;G,T)
Reference rs80357276(A;A)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41267755T>A; NC_000017.10:g.41267755T>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000221074.1, RCV000238698.1, RCV000047383.2, RCV000111820.2,