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rs121908813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908813(C;T)
Make rs121908813(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265399
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908813
ebirs121908813
HLIrs121908813
Exacrs121908813
Varsomers121908813
Maprs121908813
PheGenIrs121908813
hapmaprs121908813
1000 genomesrs121908813
hgdprs121908813
ensemblrs121908813
gopubmedrs121908813
geneviewrs121908813
scholarrs121908813
googlers121908813
pharmgkbrs121908813
gwascentralrs121908813
openSNPrs121908813
23andMers121908813
23andMe allrs121908813
SNP Nexus

SNPshotrs121908813
SNPdbers121908813
MSV3drs121908813
GWAS Ctlgrs121908813
Max Magnitude0
ClinVar
Risk rs121908813(T;T)
Alt rs121908813(T;T)
Reference rs121908813(C;C)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene CIAO1 TMEM127
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96931137G>A
CLNSRC ClinVar
CLNACC RCV000114818.1,


[PMID 21156949] Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

OMIM171300
Desc
Variant
Relatedalso