Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556617455
rs1556617455
SLC9A6
A 0.700 GeneticVariation CLINVAR SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 18342287

2008
dbSNP: rs1057519394
rs1057519394
SLC9A6
G 0.700 CausalMutation CLINVAR

dbSNP: rs122461162
rs122461162
SLC9A6
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569525357
rs1569525357
SLC9A6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398122849
rs398122849
SLC9A6
G 0.700 CausalMutation CLINVAR

dbSNP: rs398123003
rs398123003
SLC9A6
T 0.700 CausalMutation CLINVAR

dbSNP: rs587784398
rs587784398
SLC9A6
A 0.700 CausalMutation CLINVAR

dbSNP: rs587784399
rs587784399
SLC9A6
G 0.700 CausalMutation CLINVAR

dbSNP: rs730882187
rs730882187
SLC9A6
CC 0.700 CausalMutation CLINVAR

dbSNP: rs730882188
rs730882188
SLC9A6
C 0.700 CausalMutation CLINVAR

dbSNP: rs796053290
rs796053290
SLC9A6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs796053290
rs796053290
SLC9A6
C 0.700 CausalMutation CLINVAR

dbSNP: rs886037619
rs886037619
SLC9A6
G 0.700 CausalMutation CLINVAR

dbSNP: rs398124224
rs398124224
SLC9A6
0.010 GeneticVariation BEFREE We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation. 22541666

2013