Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2904551
rs2904551
0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.810 1.000 3 2002 2018
dbSNP: rs2904551
rs2904551
0.776 0.160 22 18918421 missense variant A/G snv 5.2E-03 2.8E-03
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
SCHIZOPHRENIA 4 (disorder)
0.700 1.000 2 2002 2005