Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0423224
Disease:
Sunken eyes
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1843367
Disease:
Poor school performance
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1865014
Disease:
Long philtrum
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0014544
Disease:
Epilepsy
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1837402
Disease:
Flat occiput
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0265660
Disease:
Syndactyly of the toes
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C4479520
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1853738
Disease:
Long eyelashes
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0152421
Disease:
Macrotia
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C0036572
Disease:
Seizures
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1854882
Disease:
Absent speech
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1837397
Disease:
Severe global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C4551563
Disease:
Microcephaly (physical finding)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064797102
rs1064797102
Entrez Id: 51633;100506365
Gene Symbol: OTUD6B;OTUD6B-AS1
OTUD6B;OTUD6B-AS1
CUI: C1865017
Disease:
Thin upper lip vermilion
G 0.700 CausalMutation CLINVAR