Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852216
rs137852216
AMER1
A 0.700 CausalMutation CLINVAR First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. 27369646

2017
dbSNP: rs137852216
rs137852216
AMER1
A 0.700 CausalMutation CLINVAR WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. 22716240

2012
dbSNP: rs137852216
rs137852216
AMER1
A 0.700 CausalMutation CLINVAR Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 19079258

2009