PHGDH, phosphoglycerate dehydrogenase, 26227

N. diseases: 288; N. variants: 33
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: rs12129705
rs12129705
1 119648421 5 prime UTR variant A/T snv 8.5E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs12144094
rs12144094
1 119722200 intron variant C/G snv 0.10
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2014 2014