Have questions? Visit https://www.reddit.com/r/SNPedia

rs397508914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508914(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093684
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508914
dbSNP (classic)rs397508914
ClinGenrs397508914
ebirs397508914
HLIrs397508914
Exacrs397508914
Gnomadrs397508914
Varsomers397508914
LitVarrs397508914
Maprs397508914
PheGenIrs397508914
Biobankrs397508914
1000 genomesrs397508914
hgdprs397508914
ensemblrs397508914
geneviewrs397508914
scholarrs397508914
googlers397508914
pharmgkbrs397508914
gwascentralrs397508914
openSNPrs397508914
23andMers397508914
SNPshotrs397508914
SNPdbers397508914
MSV3drs397508914
GWAS Ctlgrs397508914
Max Magnitude6

aka c.787+1058dup

ClinVar
Risk rs397508914(T;T)
Alt rs397508914(T;T)
Reference Rs397508914(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245702dupA
CLNSRC ClinVar
CLNACC RCV000047609.2,