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rs121908818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908818(C;C)
Make rs121908818(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265224
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908818
ebirs121908818
HLIrs121908818
Exacrs121908818
Varsomers121908818
Maprs121908818
PheGenIrs121908818
hapmaprs121908818
1000 genomesrs121908818
hgdprs121908818
ensemblrs121908818
gopubmedrs121908818
geneviewrs121908818
scholarrs121908818
googlers121908818
pharmgkbrs121908818
gwascentralrs121908818
openSNPrs121908818
23andMers121908818
23andMe allrs121908818
SNP Nexus

SNPshotrs121908818
SNPdbers121908818
MSV3drs121908818
GWAS Ctlgrs121908818
Max Magnitude0
ClinVar
Risk rs121908818(C;C)
Alt rs121908818(C;C)
Reference rs121908818(G;G)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene CIAO1 TMEM127
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96930962C>G
CLNSRC ClinVar
CLNACC RCV000114821.1,


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

OMIM171300
Desc
Variant
Relatedalso