Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1057516036
rs1057516036
COL1A2
A 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: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
T 0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518930
rs1057518930
COL1A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs139751598
rs139751598
PYCR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1423415130
rs1423415130
XYLT2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555222973
rs1555222973
CREB3L1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569508922
rs1569508922
ALG13
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs312262690
rs312262690
ANTXR2
AG 0.700 CausalMutation CLINVAR

dbSNP: rs527624522
rs527624522
EXT2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs66527965
rs66527965
COL1A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs751093906
rs751093906
SLC20A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
G 0.700 CausalMutation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs863225045
rs863225045
ALDH18A1
A 0.700 CausalMutation CLINVAR