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rs397507216

From SNPedia

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


Make rs397507216(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092028
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507216
dbSNP (old)rs397507216
ClinGenrs397507216
ebirs397507216
HLIrs397507216
Exacrs397507216
Varsomers397507216
Maprs397507216
PheGenIrs397507216
Biobankrs397507216
1000 genomesrs397507216
hgdprs397507216
ensemblrs397507216
gopubmedrs397507216
geneviewrs397507216
scholarrs397507216
googlers397507216
pharmgkbrs397507216
gwascentralrs397507216
openSNPrs397507216
23andMers397507216
23andMe allrs397507216
SNP Nexus

SNPshotrs397507216
SNPdbers397507216
MSV3drs397507216
GWAS Ctlgrs397507216
Max Magnitude6

BRCA1, c.3503delA (p.Asn1168Metfs)

ClinVar
Risk rs397507216(-;-)
Alt rs397507216(-;-)
Reference Rs397507216(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.41244045delT
CLNSRC ClinVar
CLNACC RCV000031113.4,