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rs397508836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508836(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094430
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508836
dbSNP (classic)rs397508836
ClinGenrs397508836
ebirs397508836
HLIrs397508836
Exacrs397508836
Gnomadrs397508836
Varsomers397508836
LitVarrs397508836
Maprs397508836
PheGenIrs397508836
Biobankrs397508836
1000 genomesrs397508836
hgdprs397508836
ensemblrs397508836
geneviewrs397508836
scholarrs397508836
googlers397508836
pharmgkbrs397508836
gwascentralrs397508836
openSNPrs397508836
23andMers397508836
SNPshotrs397508836
SNPdbers397508836
MSV3drs397508836
GWAS Ctlgrs397508836
Max Magnitude6

aka c.787+313dup

ClinVar
Risk rs397508836(C;C)
Alt rs397508836(C;C)
Reference Rs397508836(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246448dupG
CLNSRC ClinVar
CLNACC RCV000047339.2,