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rs121908819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908819(A;A)
Make rs121908819(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265174
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908819
ebirs121908819
HLIrs121908819
Exacrs121908819
Varsomers121908819
Maprs121908819
PheGenIrs121908819
hapmaprs121908819
1000 genomesrs121908819
hgdprs121908819
ensemblrs121908819
gopubmedrs121908819
geneviewrs121908819
scholarrs121908819
googlers121908819
pharmgkbrs121908819
gwascentralrs121908819
openSNPrs121908819
23andMers121908819
23andMe allrs121908819
SNP Nexus

SNPshotrs121908819
SNPdbers121908819
MSV3drs121908819
GWAS Ctlgrs121908819
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs121908819(A;A)
Alt rs121908819(A;A)
Reference rs121908819(G;G)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96930912C>T
CLNSRC ClinVar
CLNACC RCV000114822.1,


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

OMIM171300
Desc
Variant
Relatedalso