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rs121908816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTCT;GTCT) 0 common in clinvar
(TGTC;TGTC) 0 common in complete genomics
Make rs121908816(-;-)
Make rs121908816(-;TGTC)
ReferenceGRCh38 38.1/141
Chromosome2
Position96265263
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908816
ebirs121908816
HLIrs121908816
Exacrs121908816
Varsomers121908816
Maprs121908816
PheGenIrs121908816
hapmaprs121908816
1000 genomesrs121908816
hgdprs121908816
ensemblrs121908816
gopubmedrs121908816
geneviewrs121908816
scholarrs121908816
googlers121908816
pharmgkbrs121908816
gwascentralrs121908816
openSNPrs121908816
23andMers121908816
23andMe allrs121908816
SNP Nexus

SNPshotrs121908816
SNPdbers121908816
MSV3drs121908816
GWAS Ctlgrs121908816
Max Magnitude0
ClinVar
Risk rs121908816(;)
Alt rs121908816(;)
Reference rs121908816(GTCT;GTCT)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96931001_96931004delGACA
CLNSRC ClinVar
CLNACC RCV000114819.1,


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

OMIM171300
Desc
Variant
Relatedalso