rs1555386022, TRIP11

N. diseases: 38
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acromelia
CUI: C4023675
Disease: Acromelia
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Hand deformities
CUI: C0018564
Disease: Hand deformities
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Irregular vertebral endplates
CUI: C1842153
Disease: Irregular vertebral endplates
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Rhizo-meso-acromelic limb shortening
CUI: C2673654
Disease: Rhizo-meso-acromelic limb shortening
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Short fetal femur length
CUI: C0743924
Disease: Short fetal femur length
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Yellow-brown discoloration of the teeth
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
2 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Hypoplasia involving bones of the upper limbs
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
3 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Hypoplasia of lower limb
CUI: C0345371
Disease: Hypoplasia of lower limb
3 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Abnormality of the upper limb
CUI: C4020900
Disease: Abnormality of the upper limb
4 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Mesomelia
CUI: C0549306
Disease: Mesomelia
4 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Abnormality of pelvic girdle bone morphology
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Abnormality of the acetabulum
CUI: C4021739
Disease: Abnormality of the acetabulum
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Abnormality of the vertebral column
CUI: C4021789
Disease: Abnormality of the vertebral column
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Deformity of lower limb
CUI: C1096086
Disease: Deformity of lower limb
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Disproportionate short-limb short stature
CUI: C1849937
Disease: Disproportionate short-limb short stature
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Foot Deformities
CUI: C0016506
Disease: Foot Deformities
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Pyle metaphyseal dysplasia
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
5 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
6 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Rhizomelia
CUI: C1866730
Disease: Rhizomelia
6 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
7 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Secondary Caesarian section
CUI: C4072904
Disease: Secondary Caesarian section
13 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
Thoracic hypoplasia
CUI: C1837482
Disease: Thoracic hypoplasia
16 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0