Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553602821
rs1553602821
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C4540324
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553612358
rs1553612358
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C4540324
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553614300
rs1553614300
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C4540324
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553616463
rs1553616463
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C4540324
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553620494
rs1553620494
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C4540324
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0036857
Disease:
Severe intellectual disability 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0235991
Disease:
Small for gestational age (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0025990
Disease:
Micrognathism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0009806
Disease:
Constipation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1865038
Disease:
Broad toe 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C2939175
Disease:
Meconium ileus 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0454644
Disease:
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1856963
Disease:
Fragile nails 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0003578
Disease:
Apnea 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0018672
Disease:
Head Banging 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0349588
Disease:
Short stature 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0265535
Disease:
Trigonocephaly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1844806
Disease:
Weight less than 3rd percentile 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1839758
Disease:
Narrow forehead 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1866195
Disease:
Downturned corners of mouth 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0424711
Disease:
Orbital separation diminished 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0456070
Disease:
Growth delay 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0856975
Disease:
Autistic behavior 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1867873
Disease:
Failure to thrive in infancy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553655558
rs1553655558
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0019825
Disease:
Hoarseness 		G 0.700 CausalMutation CLINVAR