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rs104894310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar


Make rs104894310(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position112086921
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs104894310
dbSNP (classic)rs104894310
ClinGenrs104894310
ebirs104894310
HLIrs104894310
Exacrs104894310
Gnomadrs104894310
Varsomers104894310
LitVarrs104894310
Maprs104894310
PheGenIrs104894310
Biobankrs104894310
1000 genomesrs104894310
hgdprs104894310
ensemblrs104894310
geneviewrs104894310
scholarrs104894310
googlers104894310
pharmgkbrs104894310
gwascentralrs104894310
openSNPrs104894310
23andMers104894310
SNPshotrs104894310
SNPdbers104894310
MSV3drs104894310
GWAS Ctlgrs104894310
Max Magnitude6.2
OMIM602690
Desc
Variant0026
Relatedalso
ClinVar
Risk rs104894310(A;A)
Alt rs104894310(A;A)
Reference Rs104894310(G;G)
Significance Pathogenic
Disease Pheochromocytoma
Variation info
Gene TIMM8B SDHD
CLNDBN Pheochromocytoma
Reversed 0
HGVS NC_000011.9:g.111957645G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007325.2,