Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555652383
rs1555652383
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs121434578
rs121434578
ABAT
A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs724159992
rs724159992
ABAT
A 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518887
rs1057518887
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1421405659
rs1421405659
MYBPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553212868
rs1553212868
POGZ
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553510217
rs1553510217
TBR1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553510301
rs1553510301
TBR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553511216
rs1553511216
TBR1
GCGCCCGCAGT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553511224
rs1553511224
TBR1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1553511226
rs1553511226
TBR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554777480
rs1554777480
STXBP1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs34757931
rs34757931
VPS11
G 0.700 CausalMutation CLINVAR