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: rs1554965669
rs1554965669
0.925 0.040 11 792888 stop gained G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
Nervous System Diseases 0.700 0
dbSNP: rs936639741
rs936639741
1.000 0.040 11 793551 stop gained G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
Nervous System Diseases 0.700 0