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rs397509189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509189(-;-)
Make rs397509189(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071218
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509189
ebirs397509189
HLIrs397509189
Exacrs397509189
Varsomers397509189
Maprs397509189
PheGenIrs397509189
hapmaprs397509189
1000 genomesrs397509189
hgdprs397509189
ensemblrs397509189
gopubmedrs397509189
geneviewrs397509189
scholarrs397509189
googlers397509189
pharmgkbrs397509189
gwascentralrs397509189
openSNPrs397509189
23andMers397509189
23andMe allrs397509189
SNP Nexus

SNPshotrs397509189
SNPdbers397509189
MSV3drs397509189
GWAS Ctlgrs397509189
Max Magnitude6
rs397509189, also known as 4815insA, c.4695_4696insA and p.Ser1566IlefsX8, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs397509189(A;A)
Alt rs397509189(A;A)
Reference rs397509189(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41223236dupT
CLNSRC ClinVar
CLNACC RCV000048633.2,