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rs397509051

From SNPedia

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


Make rs397509051(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092246
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509051
dbSNP (old)rs397509051
ClinGenrs397509051
ebirs397509051
HLIrs397509051
Exacrs397509051
Gnomadrs397509051
Varsomers397509051
Maprs397509051
PheGenIrs397509051
Biobankrs397509051
1000 genomesrs397509051
hgdprs397509051
ensemblrs397509051
gopubmedrs397509051
geneviewrs397509051
scholarrs397509051
googlers397509051
pharmgkbrs397509051
gwascentralrs397509051
openSNPrs397509051
23andMers397509051
23andMe allrs397509051
SNP Nexus

SNPshotrs397509051
SNPdbers397509051
MSV3drs397509051
GWAS Ctlgrs397509051
Max Magnitude6

BRCA1, c.3285delA (p.Lys1095Asnfs)


ClinVar
Risk rs397509051(-;-)
Alt rs397509051(-;-)
Reference Rs397509051(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41244263delT
CLNSRC ClinVar
CLNACC RCV000048121.2, RCV000169309.3, RCV000478254.1,