Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs121908830(C;T)
Make rs121908830(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96254050
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908830
ebirs121908830
HLIrs121908830
Exacrs121908830
Varsomers121908830
Maprs121908830
PheGenIrs121908830
hapmaprs121908830
1000 genomesrs121908830
hgdprs121908830
ensemblrs121908830
gopubmedrs121908830
geneviewrs121908830
scholarrs121908830
googlers121908830
pharmgkbrs121908830
gwascentralrs121908830
openSNPrs121908830
23andMers121908830
23andMe allrs121908830
SNP Nexus

SNPshotrs121908830
SNPdbers121908830
MSV3drs121908830
GWAS Ctlgrs121908830
Max Magnitude0
OMIM613403
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908830(T;T)
Alt rs121908830(T;T)
Reference rs121908830(C;C)
Significance Other
Disease Pheochromocytoma Hereditary cancer-predisposing syndrome
Variation info
Gene TMEM127
CLNDBN Pheochromocytoma, susceptibility to Pheochromocytoma Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000002.11:g.96919788G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000128.2, RCV000114833.1, RCV000164900.1,


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