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rs398122640

From SNPedia

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


Make rs398122640(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093903
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122640
dbSNP (classic)rs398122640
ClinGenrs398122640
ebirs398122640
HLIrs398122640
Exacrs398122640
Gnomadrs398122640
Varsomers398122640
LitVarrs398122640
Maprs398122640
PheGenIrs398122640
Biobankrs398122640
1000 genomesrs398122640
hgdprs398122640
ensemblrs398122640
geneviewrs398122640
scholarrs398122640
googlers398122640
pharmgkbrs398122640
gwascentralrs398122640
openSNPrs398122640
23andMers398122640
SNPshotrs398122640
SNPdbers398122640
MSV3drs398122640
GWAS Ctlgrs398122640
Max Magnitude6

BRCA1, c.1628delG (p.Gly543Valfs)

ClinVar
Risk rs398122640(-;-)
Alt rs398122640(-;-)
Reference Rs398122640(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245920delC
CLNSRC ClinVar
CLNACC RCV000077077.3,