SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
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: rs121908321
rs121908321
0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2014
dbSNP: rs121908322
rs121908322
1.000 0.160 4 9980681 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs753482595
rs753482595
0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012