Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR

dbSNP: rs113812345
rs113812345
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913528
rs121913528
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1316347883
rs1316347883
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854461
rs137854461
C 0.700 CausalMutation CLINVAR

dbSNP: rs1443187318
rs1443187318
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1554317002
rs1554317002
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555398397
rs1555398397
T 0.700 GeneticVariation CLINVAR

dbSNP: rs387906846
rs387906846
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515789
rs397515789
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515804
rs397515804
T 0.700 CausalMutation CLINVAR

dbSNP: rs771866012
rs771866012
T 0.700 CausalMutation CLINVAR

dbSNP: rs864321670
rs864321670
T 0.700 CausalMutation CLINVAR

dbSNP: rs2272515
rs2272515
0.010 GeneticVariation BEFREE Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis. 30722102

2019

dbSNP: rs140291094
rs140291094
0.010 GeneticVariation BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491

2017