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rs121908831

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs121908831(-;-)
Make rs121908831(-;GCTGCTCTCAGAGA)
Make rs121908831(GCTGCTCTCAGAGA;GCTGCTCTCAGAGA)
ReferenceGRCh38 38.1/141
Chromosome2
Position96253884
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908831
ebirs121908831
HLIrs121908831
Exacrs121908831
Varsomers121908831
Maprs121908831
PheGenIrs121908831
hapmaprs121908831
1000 genomesrs121908831
hgdprs121908831
ensemblrs121908831
gopubmedrs121908831
geneviewrs121908831
scholarrs121908831
googlers121908831
pharmgkbrs121908831
gwascentralrs121908831
openSNPrs121908831
23andMers121908831
23andMe allrs121908831
SNP Nexus

SNPshotrs121908831
SNPdbers121908831
MSV3drs121908831
GWAS Ctlgrs121908831
Max Magnitude0
ClinVar
Risk rs121908831(GCTGCTCTCAGAGA;GCTGCTCTCAGAGA)
Alt rs121908831(GCTGCTCTCAGAGA;GCTGCTCTCAGAGA)
Reference rs121908831(;)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96919623_96919636dupTCTCTGAGAGCAGC
CLNSRC ClinVar
CLNACC RCV000114834.1,


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

OMIM171300
Desc
Variant
Relatedalso