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rs121908823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908823(A;A)
Make rs121908823(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position96254974
GeneTMEM127
is asnp
is mentioned by
dbSNPrs121908823
ebirs121908823
HLIrs121908823
Exacrs121908823
Varsomers121908823
Maprs121908823
PheGenIrs121908823
hapmaprs121908823
1000 genomesrs121908823
hgdprs121908823
ensemblrs121908823
gopubmedrs121908823
geneviewrs121908823
scholarrs121908823
googlers121908823
pharmgkbrs121908823
gwascentralrs121908823
openSNPrs121908823
23andMers121908823
23andMe allrs121908823
SNP Nexus

SNPshotrs121908823
SNPdbers121908823
MSV3drs121908823
GWAS Ctlgrs121908823
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs121908823(A;A)
Alt rs121908823(A;A)
Reference rs121908823(G;G)
Significance Other
Disease Pheochromocytoma Hereditary cancer-predisposing syndrome Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene TMEM127
CLNDBN Pheochromocytoma Hereditary cancer-predisposing syndrome Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 1
HGVS NC_000002.11:g.96920712C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000123408.3, RCV000162495.1, RCV000226605.1,


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

OMIM171300
Desc
Variant
Relatedalso