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rs375129361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs375129361(A;A)
Make rs375129361(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52408056
GeneBAP1
is asnp
is mentioned by
dbSNPrs375129361
ebirs375129361
HLIrs375129361
Exacrs375129361
Varsomers375129361
Maprs375129361
PheGenIrs375129361
hapmaprs375129361
1000 genomesrs375129361
hgdprs375129361
ensemblrs375129361
gopubmedrs375129361
geneviewrs375129361
scholarrs375129361
googlers375129361
pharmgkbrs375129361
gwascentralrs375129361
openSNPrs375129361
23andMers375129361
23andMe allrs375129361
SNP Nexus

SNPshotrs375129361
SNPdbers375129361
MSV3drs375129361
GWAS Ctlgrs375129361
Max Magnitude0
ClinVar
Risk rs375129361(A,C;A,C)
Alt rs375129361(A,C;A,C)
Reference rs375129361(T;T)
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.52442072T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000049290.3,