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rs397508948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar
(AA;G) 6 BRCA1 variant considered pathogenic for breast cancer


Make rs397508948(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093335
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508948
dbSNP (classic)rs397508948
ClinGenrs397508948
ebirs397508948
HLIrs397508948
Exacrs397508948
Gnomadrs397508948
Varsomers397508948
LitVarrs397508948
Maprs397508948
PheGenIrs397508948
Biobankrs397508948
1000 genomesrs397508948
hgdprs397508948
ensemblrs397508948
geneviewrs397508948
scholarrs397508948
googlers397508948
pharmgkbrs397508948
gwascentralrs397508948
openSNPrs397508948
23andMers397508948
SNPshotrs397508948
SNPdbers397508948
MSV3drs397508948
GWAS Ctlgrs397508948
Max Magnitude6

aka c.787+1408_787+1409delAAinsG as well as c.787+1409delA; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs397508948(-;-)
Alt rs397508948(-;-)
Reference Rs397508948(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245352delT
CLNSRC ClinVar
CLNACC RCV000047752.2,