Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518849
rs1057518849
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0557874
Disease:
Global developmental delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518849
rs1057518849
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0311394
Disease:
Difficulty walking
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518849
rs1057518849
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0424503
Disease:
Dysmorphic facies
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518849
rs1057518849
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0266464
Disease:
Polymicrogyria
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1843367
Disease:
Poor school performance
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1845847
Disease:
Coarse facial features
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1840077
Disease:
Anteverted nostril
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0036341
Disease:
Schizophrenia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0557874
Disease:
Global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0431447
Disease:
Synophrys
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1843367
Disease:
Poor school performance
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0431447
Disease:
Synophrys
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0557874
Disease:
Global developmental delay
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1845847
Disease:
Coarse facial features
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0036341
Disease:
Schizophrenia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1840077
Disease:
Anteverted nostril
C 0.700 GeneticVariation CLINVAR
dbSNP: rs121918301
rs121918301
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918301
rs121918301
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852714
rs137852714
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852717
rs137852717
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852718
rs137852718
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852720
rs137852720
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs137852721
rs137852721
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs137852722
rs137852722
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
A 0.700 CausalMutation CLINVAR