Source: CLINVAR ×
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.
Autistic features
CUI: C1846135
Disease: Autistic features
1 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
31 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
36 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
18 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0