PNP, purine nucleoside phosphorylase, 4860

N. diseases: 161; N. variants: 13
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: rs3790064
rs3790064
14 20472910 non coding transcript exon variant A/G;T snv
CUI: C0037284
Disease: Skin lesion
Skin lesion
Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018