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rs121908817

From SNPedia

Orientationminus
Stabilizedminus
Make rs121908817(-;-)
Make rs121908817(-;A)
Make rs121908817(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265232
GeneCIAO1, TMEM127
is asnp
is mentioned by
dbSNPrs121908817
dbSNP (old)rs121908817
ClinGenrs121908817
ebirs121908817
HLIrs121908817
Exacrs121908817
Gnomadrs121908817
Varsomers121908817
Maprs121908817
PheGenIrs121908817
Biobankrs121908817
1000 genomesrs121908817
hgdprs121908817
ensemblrs121908817
gopubmedrs121908817
geneviewrs121908817
scholarrs121908817
googlers121908817
pharmgkbrs121908817
gwascentralrs121908817
openSNPrs121908817
23andMers121908817
23andMe allrs121908817
SNP Nexus

SNPshotrs121908817
SNPdbers121908817
MSV3drs121908817
GWAS Ctlgrs121908817
Max Magnitude
OMIM613403
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908817(A;A)
Alt rs121908817(A;A)
Reference rs121908817(-;-)
Significance Other
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma, susceptibility to Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96930971dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000130.3, RCV000114820.1,


[PMID 20154675OA-icon.png] Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.