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.
Abnormality of mouth size
CUI: C4023408
Disease: Abnormality of mouth size
2 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
27 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Early Infantile Epileptic Encephalopathy 6
392 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Inspiratory stridor
CUI: C0677600
Disease: Inspiratory stridor
2 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
Talipes
CUI: C1301937
Disease: Talipes
2 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0