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

rs397508896

From SNPedia

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


Make rs397508896(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093857
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508896
dbSNP (classic)rs397508896
ClinGenrs397508896
ebirs397508896
HLIrs397508896
Exacrs397508896
Gnomadrs397508896
Varsomers397508896
LitVarrs397508896
Maprs397508896
PheGenIrs397508896
Biobankrs397508896
1000 genomesrs397508896
hgdprs397508896
ensemblrs397508896
geneviewrs397508896
scholarrs397508896
googlers397508896
pharmgkbrs397508896
gwascentralrs397508896
openSNPrs397508896
23andMers397508896
SNPshotrs397508896
SNPdbers397508896
MSV3drs397508896
GWAS Ctlgrs397508896
Max Magnitude6

BRCA1, c.1673_1674delAA (p.Lys558Argfs)

ClinVar
Risk rs397508896(-;-)
Alt rs397508896(-;-)
Reference Rs397508896(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245874_41245875delTT
CLNSRC ClinVar
CLNACC RCV000047555.3, RCV000241306.2,