rs104886492, HSD17B10

N. diseases: 3
Source: ALL
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.
2-methyl-3-hydroxybutyric aciduria
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
10 1.000 0.120 X 53432410 missense variant A/G snv 0.700 1.000 12 2003 2017
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011
Learning Disabilities
CUI: C0751265
Disease: Learning Disabilities
5 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011