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rs80357069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357069(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049164
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357069
ebirs80357069
HLIrs80357069
Exacrs80357069
Varsomers80357069
Maprs80357069
PheGenIrs80357069
hapmaprs80357069
1000 genomesrs80357069
hgdprs80357069
ensemblrs80357069
gopubmedrs80357069
geneviewrs80357069
scholarrs80357069
googlers80357069
pharmgkbrs80357069
gwascentralrs80357069
openSNPrs80357069
23andMers80357069
23andMe allrs80357069
SNP Nexus

SNPshotrs80357069
SNPdbers80357069
MSV3drs80357069
GWAS Ctlgrs80357069
Max Magnitude6

c.5363G>T (p.Gly1788Val)


ClinVar
Risk rs80357069(A,T;A,T)
Alt rs80357069(A,T;A,T)
Reference rs80357069(G;G)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41201181C>A; NC_000017.10:g.41201181C>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000031241.6, RCV000048961.3, RCV000162885.1, RCV000235698.1, RCV000048960.2, RCV000077620.4,