Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894421
rs104894421
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2004 2004