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

rs397507214

From SNPedia

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


Make rs397507214(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104234
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507214
dbSNP (classic)rs397507214
ClinGenrs397507214
ebirs397507214
HLIrs397507214
Exacrs397507214
Gnomadrs397507214
Varsomers397507214
LitVarrs397507214
Maprs397507214
PheGenIrs397507214
Biobankrs397507214
1000 genomesrs397507214
hgdprs397507214
ensemblrs397507214
geneviewrs397507214
scholarrs397507214
googlers397507214
pharmgkbrs397507214
gwascentralrs397507214
openSNPrs397507214
23andMers397507214
SNPshotrs397507214
SNPdbers397507214
MSV3drs397507214
GWAS Ctlgrs397507214
Max Magnitude6

BRCA1, c.329delA (p.Lys110Argfs)

ClinVar
Risk rs397507214(-;-)
Alt rs397507214(-;-)
Reference Rs397507214(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41256251delT
CLNSRC ClinVar
CLNACC RCV000031102.5,