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rs397508946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGAA;AAGAA) 0 common in clinvar
Make rs397508946(-;-)
Make rs397508946(-;AAGAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093335
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508946
ebirs397508946
HLIrs397508946
Exacrs397508946
Varsomers397508946
Maprs397508946
PheGenIrs397508946
hapmaprs397508946
1000 genomesrs397508946
hgdprs397508946
ensemblrs397508946
gopubmedrs397508946
geneviewrs397508946
scholarrs397508946
googlers397508946
pharmgkbrs397508946
gwascentralrs397508946
openSNPrs397508946
23andMers397508946
23andMe allrs397508946
SNP Nexus

SNPshotrs397508946
SNPdbers397508946
MSV3drs397508946
GWAS Ctlgrs397508946
Max Magnitude0
ClinVar
Risk rs397508946(;)
Alt rs397508946(;)
Reference rs397508946(AAGAA;AAGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245352_41245356delTTCTT
CLNSRC ClinVar
CLNACC RCV000047749.2, RCV000211020.1, RCV000213548.1,