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rs104894308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894308(A;A)
Make rs104894308(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112087933
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs104894308
ebirs104894308
HLIrs104894308
Exacrs104894308
Varsomers104894308
Maprs104894308
PheGenIrs104894308
hapmaprs104894308
1000 genomesrs104894308
hgdprs104894308
ensemblrs104894308
gopubmedrs104894308
geneviewrs104894308
scholarrs104894308
googlers104894308
pharmgkbrs104894308
gwascentralrs104894308
openSNPrs104894308
23andMers104894308
23andMe allrs104894308
SNP Nexus

SNPshotrs104894308
SNPdbers104894308
MSV3drs104894308
GWAS Ctlgrs104894308
Max Magnitude0
OMIM602690
Desc
Variant0023
Relatedalso
ClinVar
Risk rs104894308(A;A)
Alt rs104894308(A;A)
Reference rs104894308(G;G)
Significance Pathogenic
Disease Paragangliomas 1 Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene TIMM8B SDHD
CLNDBN Paragangliomas 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.111958657G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007322.2, RCV000222413.1,