Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516033
rs1057516033
KAT6B
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs797044484
rs797044484
TP63
G 0.700 CausalMutation CLINVAR Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 19903181

2010
dbSNP: rs1223073957
rs1223073957
MED25
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1554844486
rs1554844486
KAT6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557006903
rs1557006903
HUWE1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776291104
rs776291104
MED25
T 0.700 GeneticVariation CLINVAR

dbSNP: rs879253745
rs879253745
ARID1B
G 0.700 CausalMutation CLINVAR

dbSNP: rs879253746
rs879253746
ARID1B
GT 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253856
rs879253856
ARID1B
TCCGCAGCCACTCC 0.700 CausalMutation CLINVAR

dbSNP: rs886039909
rs886039909
HSPG2
T 0.700 GeneticVariation CLINVAR