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rs121908822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs121908822(-;-)
Make rs121908822(-;ACAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position96254974
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908822
ebirs121908822
HLIrs121908822
Exacrs121908822
Varsomers121908822
Maprs121908822
PheGenIrs121908822
hapmaprs121908822
1000 genomesrs121908822
hgdprs121908822
ensemblrs121908822
gopubmedrs121908822
geneviewrs121908822
scholarrs121908822
googlers121908822
pharmgkbrs121908822
gwascentralrs121908822
openSNPrs121908822
23andMers121908822
23andMe allrs121908822
SNP Nexus

SNPshotrs121908822
SNPdbers121908822
MSV3drs121908822
GWAS Ctlgrs121908822
Max Magnitude0
ClinVar
Risk rs121908822(;)
Alt rs121908822(;)
Reference rs121908822(ACAG;ACAG)
Significance Probable-Pathogenic
Disease Pheochromocytoma
Variation info
Gene TMEM127
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96920712_96920715delCTGT
CLNSRC ClinVar
CLNACC RCV000114825.1,


[PMID 20154675OA-icon.png] Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

OMIM171300
Desc
Variant
Relatedalso