Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746800707
rs746800707
AAR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750427
rs63750427
ABCC6
T 0.700 CausalMutation CLINVAR

dbSNP: rs72664233
rs72664233
ABCC6
C 0.700 CausalMutation CLINVAR

dbSNP: rs1285524167
rs1285524167
ABCC8
0.010 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922

2006
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR

dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499738
rs1060499738
ACTL6B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692228
rs1131692228
ACTL6B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567815105
rs1567815105
ADGRG1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs587776625
rs587776625
ADGRG1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564069651
rs1564069651
AGTPBP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564069807
rs1564069807
AGTPBP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587779766
rs587779766
AHDC1
C 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs587779767
rs587779767
AHDC1
A 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs587779768
rs587779768
AHDC1
A 0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
dbSNP: rs121434350
rs121434350
AHI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587776935
rs587776935
AKT3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863225045
rs863225045
ALDH18A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569508922
rs1569508922
ALG13
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1560162116
rs1560162116
ALG3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1560164682
rs1560164682
ALG3
C 0.700 GeneticVariation CLINVAR