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rs121908824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908824(C;T)
Make rs121908824(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position96254962
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908824
ebirs121908824
HLIrs121908824
Exacrs121908824
Varsomers121908824
Maprs121908824
PheGenIrs121908824
hapmaprs121908824
1000 genomesrs121908824
hgdprs121908824
ensemblrs121908824
gopubmedrs121908824
geneviewrs121908824
scholarrs121908824
googlers121908824
pharmgkbrs121908824
gwascentralrs121908824
openSNPrs121908824
23andMers121908824
23andMe allrs121908824
SNP Nexus

SNPshotrs121908824
SNPdbers121908824
MSV3drs121908824
GWAS Ctlgrs121908824
Max Magnitude0
ClinVar
Risk rs121908824(G,T;G,T)
Alt rs121908824(G,T;G,T)
Reference rs121908824(C;C)
Significance Probable-Pathogenic
Disease Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene TMEM127
CLNDBN Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 1
HGVS NC_000002.11:g.96920700G>A
CLNSRC ClinVar
CLNACC RCV000114826.1, RCV000229383.1,


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

OMIM171300
Desc
Variant
Relatedalso