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rs104894309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894309(A;A)
Make rs104894309(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position112086940
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs104894309
ebirs104894309
HLIrs104894309
Exacrs104894309
Varsomers104894309
Maprs104894309
PheGenIrs104894309
hapmaprs104894309
1000 genomesrs104894309
hgdprs104894309
ensemblrs104894309
gopubmedrs104894309
geneviewrs104894309
scholarrs104894309
googlers104894309
pharmgkbrs104894309
gwascentralrs104894309
openSNPrs104894309
23andMers104894309
23andMe allrs104894309
SNP Nexus

SNPshotrs104894309
SNPdbers104894309
MSV3drs104894309
GWAS Ctlgrs104894309
Max Magnitude0
OMIM602690
Desc
Variant0025
Relatedalso
ClinVar
Risk rs104894309(A,T;A,T)
Alt rs104894309(A,T;A,T)
Reference rs104894309(C;C)
Significance Pathogenic
Disease Pheochromocytoma Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene TIMM8B SDHD
CLNDBN Pheochromocytoma Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.111957664C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007324.2, RCV000221327.1,