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.
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Short uvula
CUI: C1401781
Disease: Short uvula
2 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Sprengel deformity
CUI: C0152438
Disease: Sprengel deformity
4 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Thyroiditis
CUI: C0040147
Disease: Thyroiditis
7 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Unilateral cleft lip
CUI: C0392006
Disease: Unilateral cleft lip
1 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
Unilateral cleft palate
CUI: C4022143
Disease: Unilateral cleft palate
1 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
CUI: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
2 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.800 0
Winged scapula
CUI: C0240953
Disease: Winged scapula
3 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0