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rs80357222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80357222(A;T)
Make rs80357222(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063883
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357222
ebirs80357222
HLIrs80357222
Exacrs80357222
Varsomers80357222
Maprs80357222
PheGenIrs80357222
hapmaprs80357222
1000 genomesrs80357222
hgdprs80357222
ensemblrs80357222
gopubmedrs80357222
geneviewrs80357222
scholarrs80357222
googlers80357222
pharmgkbrs80357222
gwascentralrs80357222
openSNPrs80357222
23andMers80357222
23andMe allrs80357222
SNP Nexus

SNPshotrs80357222
SNPdbers80357222
MSV3drs80357222
GWAS Ctlgrs80357222
Max Magnitude0
ClinVar
Risk rs80357222(C,T;C,T)
Alt rs80357222(C,T;C,T)
Reference rs80357222(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41215900T>A; NC_000017.10:g.41215900T>G
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048811.2, RCV000112506.1, RCV000129744.2, RCV000236177.1, RCV000048810.2, RCV000112505.2,