Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516048
rs1057516048
NSD1
T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561964103
rs1561964103
TFAP2B
C 0.700 CausalMutation CLINVAR

dbSNP: rs1564919048
rs1564919048
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs281875196
rs281875196
SMARCA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs66527965
rs66527965
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs763028380
rs763028380
ABCC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
C 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR