Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908817

From SNPedia

OMIM613403
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908817(A;A)
Alt rs121908817(A;A)
Reference rs121908817(;)
Significance Other
Disease Pheochromocytoma
Variation info
Gene TMEM127 CIAO1
CLNDBN Pheochromocytoma, susceptibility to Pheochromocytoma
Reversed 1
HGVS NC_000002.11:g.96930971dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000130.3, RCV000114820.1,


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