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rs80356937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80356937(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057117
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356937
ebirs80356937
HLIrs80356937
Exacrs80356937
Varsomers80356937
Maprs80356937
PheGenIrs80356937
hapmaprs80356937
1000 genomesrs80356937
hgdprs80356937
ensemblrs80356937
gopubmedrs80356937
geneviewrs80356937
scholarrs80356937
googlers80356937
pharmgkbrs80356937
gwascentralrs80356937
openSNPrs80356937
23andMers80356937
23andMe allrs80356937
SNP Nexus

SNPshotrs80356937
SNPdbers80356937
MSV3drs80356937
GWAS Ctlgrs80356937
Max Magnitude6

c.5212G>A (p.Gly1738Arg)

ClinVar designates this as pathogenic for breast cancer

ClinVar
Risk rs80356937(A;A)
Alt rs80356937(A;A)
Reference rs80356937(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41209134C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048863.2, RCV000112566.2, RCV000239131.1,