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rs387906849

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906849(C;T)
Make rs387906849(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52405897
GeneBAP1
is asnp
is mentioned by
dbSNPrs387906849
ebirs387906849
HLIrs387906849
Exacrs387906849
Varsomers387906849
Maprs387906849
PheGenIrs387906849
hapmaprs387906849
1000 genomesrs387906849
hgdprs387906849
ensemblrs387906849
gopubmedrs387906849
geneviewrs387906849
scholarrs387906849
googlers387906849
pharmgkbrs387906849
gwascentralrs387906849
openSNPrs387906849
23andMers387906849
23andMe allrs387906849
SNP Nexus

SNPshotrs387906849
SNPdbers387906849
MSV3drs387906849
GWAS Ctlgrs387906849
Max Magnitude0
ClinVar
Risk rs387906849(T;T)
Alt rs387906849(T;T)
Reference Rs387906849(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BAP1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000003.11:g.52439913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023240.2,