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rs143901408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143901408(A;G)
Make rs143901408(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52407235
GeneBAP1
is asnp
is mentioned by
dbSNPrs143901408
dbSNP (old)rs143901408
ClinGenrs143901408
ebirs143901408
HLIrs143901408
Exacrs143901408
Gnomadrs143901408
Varsomers143901408
LitVarrs143901408
Maprs143901408
PheGenIrs143901408
Biobankrs143901408
1000 genomesrs143901408
hgdprs143901408
ensemblrs143901408
gopubmedrs143901408
geneviewrs143901408
scholarrs143901408
googlers143901408
pharmgkbrs143901408
gwascentralrs143901408
openSNPrs143901408
23andMers143901408
23andMe allrs143901408
SNPshotrs143901408
SNPdbers143901408
MSV3drs143901408
GWAS Ctlgrs143901408
Max Magnitude0
ClinVar
Risk rs143901408(C;C) rs143901408(G;G)
Alt rs143901408(C;C) rs143901408(G;G)
Reference Rs143901408(A;A)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BAP1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.52441251A>C; NC_000003.11:g.52441251A>G
CLNSRC
CLNACC RCV000463331.1, RCV000230465.2,