rs771866012, CHST3

N. diseases: 8
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.
Fixed elbow flexion
CUI: C4025044
Disease: Fixed elbow flexion
1 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Flattened epiphysis
CUI: C1857527
Disease: Flattened epiphysis
3 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Limited hip extension
CUI: C3553368
Disease: Limited hip extension
2 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Short metacarpal
CUI: C1837084
Disease: Short metacarpal
7 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0
Spondyloepiphyseal dysplasia, Omani type
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
16 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0