Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518849
rs1057518849
EHMT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402758
rs1135402758
NUP214
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434616
rs121434616
CUL4B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1223073957
rs1223073957
MED25
A 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
PRMT7
A 0.700 CausalMutation CLINVAR

dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
A 0.700 CausalMutation CLINVAR

dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs147030232
rs147030232
BBS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs149830411
rs149830411
KANSL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553196096
rs1553196096
CDC42
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553538917
rs1553538917
SATB2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553763618
rs1553763618
POLR3GL
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554032789
rs1554032789
NIPBL
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554297905
rs1554297905
RALA
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018
dbSNP: rs1554555063
rs1554555063
TMEM67
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1560092224
rs1560092224
ZBTB20
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1565369746
rs1565369746
KCNK4 ; KCNK4-TEX40
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565977796
rs1565977796
CDK8
A 0.700 CausalMutation CLINVAR

dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
A 0.700 CausalMutation CLINVAR

dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607116
rs267607116
TMEM67
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009