USP18, ubiquitin specific peptidase 18, 11274

N. diseases: 79; N. variants: 2
Source: ALL
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: rs1085307118
rs1085307118
1.000 22 18169868 stop gained C/T snv
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2
0.700 0
dbSNP: rs2542109
rs2542109
1.000 0.080 22 18167094 intron variant A/G snv 0.53
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013