SAE1, SUMO1 activating enzyme subunit 1, 10055

N. diseases: 15; N. variants: 3
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: rs307896
rs307896
1.000 0.080 19 47158236 intron variant G/A;C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.800 1.000 2 2011 2016
dbSNP: rs307896
rs307896
1.000 0.080 19 47158236 intron variant G/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2016 2016
dbSNP: rs309190
rs309190
19 47126007 intron variant T/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2016 2016
dbSNP: rs3745621
rs3745621
19 47186664 intron variant C/A;G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016