Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852724
rs137852724
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852725
rs137852725
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852726
rs137852726
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852726
rs137852726
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852727
rs137852727
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs137852727
rs137852727
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551771
Disease:
Kleefstra syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1429360126
rs1429360126
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554867189
rs1554867189
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1554879411
rs1554879411
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
CG 0.700 CausalMutation CLINVAR
dbSNP: rs1554880275
rs1554880275
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1
ACCCAAAGCAGCTGTACT 0.700 CausalMutation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1832597
Disease:
Herniation of intervertebral nuclei
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0575802
Disease:
Small hand
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1861324
Disease:
Short philtrum
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1850049
Disease:
Clinodactyly of the 5th finger
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0431890
Disease:
Hypoplasia of thumb
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C4021789
Disease:
Abnormality of the vertebral column
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1846950
Disease:
Short middle phalanx of finger
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0545053
Disease:
Advanced bone age
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0566620
Disease:
Nasal voice
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0263870
Disease:
Narrowing of intervertebral disc space
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1866195
Disease:
Downturned corners of mouth
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0454644
Disease:
Delayed speech and language development
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0747085
Disease:
Recurrent otitis media
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1852464
Disease:
Abnormality of the cervical spine
T 0.700 GeneticVariation CLINVAR