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rs398122662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs398122662(A;A)
Make rs398122662(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position43092980
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122662
dbSNP (classic)rs398122662
ClinGenrs398122662
ebirs398122662
HLIrs398122662
Exacrs398122662
Gnomadrs398122662
Varsomers398122662
LitVarrs398122662
Maprs398122662
PheGenIrs398122662
Biobankrs398122662
1000 genomesrs398122662
hgdprs398122662
ensemblrs398122662
geneviewrs398122662
scholarrs398122662
googlers398122662
pharmgkbrs398122662
gwascentralrs398122662
openSNPrs398122662
23andMers398122662
SNPshotrs398122662
SNPdbers398122662
MSV3drs398122662
GWAS Ctlgrs398122662
Max Magnitude6
ClinVar
Risk rs398122662(A;A) rs398122662(T;T)
Alt rs398122662(A;A) rs398122662(T;T)
Reference Rs398122662(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41244997C>A; NC_000017.10:g.41244997C>T
CLNSRC
CLNACC RCV000256930.2, RCV000077110.3, RCV000159874.2,