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rs121908814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908814(G;T)
Make rs121908814(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265379
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908814
ebirs121908814
HLIrs121908814
Exacrs121908814
Varsomers121908814
Maprs121908814
PheGenIrs121908814
hapmaprs121908814
1000 genomesrs121908814
hgdprs121908814
ensemblrs121908814
gopubmedrs121908814
geneviewrs121908814
scholarrs121908814
googlers121908814
pharmgkbrs121908814
gwascentralrs121908814
openSNPrs121908814
23andMers121908814
23andMe allrs121908814
SNP Nexus

SNPshotrs121908814
SNPdbers121908814
MSV3drs121908814
GWAS Ctlgrs121908814
Max Magnitude0
ClinVar
Risk rs121908814(T;T)
Alt rs121908814(T;T)
Reference rs121908814(G;G)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96931117C>A
CLNSRC ClinVar
CLNACC RCV000114827.1,


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

OMIM171300
Desc
Variant
Relatedalso