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rs397509030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACTAAA;AACTAAA) 0 common in clinvar
Make rs397509030(-;-)
Make rs397509030(-;AACTAAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092552
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509030
ebirs397509030
HLIrs397509030
Exacrs397509030
Varsomers397509030
Maprs397509030
PheGenIrs397509030
hapmaprs397509030
1000 genomesrs397509030
hgdprs397509030
ensemblrs397509030
gopubmedrs397509030
geneviewrs397509030
scholarrs397509030
googlers397509030
pharmgkbrs397509030
gwascentralrs397509030
openSNPrs397509030
23andMers397509030
23andMe allrs397509030
SNP Nexus

SNPshotrs397509030
SNPdbers397509030
MSV3drs397509030
GWAS Ctlgrs397509030
Max Magnitude0
ClinVar
Risk rs397509030(;)
Alt rs397509030(;)
Reference rs397509030(AACTAAA;AACTAAA)
Significance Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244569_41244575delTTTAGTT
CLNSRC ClinVar
CLNACC RCV000048027.2, RCV000223360.1,