Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10083447
rs10083447
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1133441
rs1133441
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1053206465
rs1053206465
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0265273
Disease:
Achondrogenesis type 1A
A 0.700 CausalMutation CLINVAR
dbSNP: rs1085307101
rs1085307101
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0265273
Disease:
Achondrogenesis type 1A
A 0.700 GeneticVariation CLINVAR Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 20089971 2010
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0349588
Disease:
Short stature
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0085207
Disease:
Gestational Diabetes
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1863008
Disease:
Yellow-brown discoloration of the teeth
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0878659
Disease:
Disproportionate short stature
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4021739
Disease:
Abnormality of the acetabulum
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1865017
Disease:
Thin upper lip vermilion
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0549306
Disease:
Mesomelia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0158986
Disease:
Neonatal hypoglycemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1096086
Disease:
Deformity of lower limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0454644
Disease:
Delayed speech and language development
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837406
Disease:
Hypoplasia involving bones of the upper limbs
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837658
Disease:
Gross motor development delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0549629
Disease:
Abnormal delivery
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1842153
Disease:
Irregular vertebral endplates
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4281993
Disease:
Neonatal respiratory distress
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4020900
Disease:
Abnormality of the upper limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0024003
Disease:
Lordosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0345371
Disease:
Hypoplasia of lower limb
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2745953
Disease:
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C1837482
Disease:
Thoracic hypoplasia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1400419650
rs1400419650
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0016506
Disease:
Foot Deformities
A 0.700 CausalMutation CLINVAR