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rs398122699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs398122699(A;G)
Make rs398122699(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045804
GeneBRCA1
is asnp
is mentioned by
dbSNPrs398122699
dbSNP (classic)rs398122699
ClinGenrs398122699
ebirs398122699
HLIrs398122699
Exacrs398122699
Gnomadrs398122699
Varsomers398122699
LitVarrs398122699
Maprs398122699
PheGenIrs398122699
Biobankrs398122699
1000 genomesrs398122699
hgdprs398122699
ensemblrs398122699
geneviewrs398122699
scholarrs398122699
googlers398122699
pharmgkbrs398122699
gwascentralrs398122699
openSNPrs398122699
23andMers398122699
SNPshotrs398122699
SNPdbers398122699
MSV3drs398122699
GWAS Ctlgrs398122699
Max Magnitude6
ClinVar
Risk rs398122699(G;G) rs398122699(T;T)
Alt rs398122699(G;G) rs398122699(T;T)
Reference Rs398122699(A;A)
Significance Other
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41197821T>A; NC_000017.10:g.41197821T>C
CLNSRC ClinVar
CLNACC RCV000258333.1, RCV000077170.2,