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rs397508835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508835(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094431
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508835
dbSNP (classic)rs397508835
ClinGenrs397508835
ebirs397508835
HLIrs397508835
Exacrs397508835
Gnomadrs397508835
Varsomers397508835
LitVarrs397508835
Maprs397508835
PheGenIrs397508835
Biobankrs397508835
1000 genomesrs397508835
hgdprs397508835
ensemblrs397508835
geneviewrs397508835
scholarrs397508835
googlers397508835
pharmgkbrs397508835
gwascentralrs397508835
openSNPrs397508835
23andMers397508835
SNPshotrs397508835
SNPdbers397508835
MSV3drs397508835
GWAS Ctlgrs397508835
Max Magnitude6

aka c.787+312dup

ClinVar
Risk rs397508835(A;A)
Alt rs397508835(A;A)
Reference Rs397508835(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246449dupT
CLNSRC ClinVar
CLNACC RCV000047338.2,