Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852695
rs137852695
PPT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs143657539
rs143657539
PPT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs144900171
rs144900171
SYT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554504663
rs1554504663
RHOBTB2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565922388
rs1565922388
SYT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565922395
rs1565922395
SYT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1565962725
rs1565962725
SYT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
T 0.700 CausalMutation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555911098
rs1555911098
EP300
G 0.700 GeneticVariation CLINVAR Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. 13983033

1963
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
C 0.700 CausalMutation CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920

1966
dbSNP: rs869025340
rs869025340
BRAF
T 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs869025340
rs869025340
BRAF
T 0.700 CausalMutation CLINVAR Multiple lentigenes syndrome. 5771505

1969
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861

1971
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Anesthetic-induced malignant hyperpyrexia in children. 4149045

1973
dbSNP: rs1554059320
rs1554059320
RICTOR
G 0.700 GeneticVariation CLINVAR Nutrition education in the medical school curriculum: a proposal for action: a curriculum design. 2006

1976
dbSNP: rs1555605688
rs1555605688
CLTC
T 0.700 GeneticVariation CLINVAR Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles. 1063406

1976
dbSNP: rs1555869758
rs1555869758
KCNQ2
C 0.700 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523

1980
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
C 0.700 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523

1980
dbSNP: rs1555706706
rs1555706706
MAN2B1
T 0.700 CausalMutation CLINVAR Mannosidosis: two brothers with different degrees of disease severity. 7307317

1981