Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553602821
rs1553602821
TRIP12
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1553612358
rs1553612358
TRIP12
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553614300
rs1553614300
TRIP12
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553616463
rs1553616463
TRIP12
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553620494
rs1553620494
TRIP12
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C4021959
Disease: Round ear
Round ear 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1865038
Disease: Broad toe
Broad toe 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1867131
Disease: Broad hallux
Broad hallux 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0003578
Disease: Apnea
Apnea 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0009806
Disease: Constipation
Constipation 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		G 0.700 CausalMutation CLINVAR