ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
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: rs3738814
rs3738814
1 17005181 intron variant A/G snv 0.52
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 3 2010 2019
dbSNP: rs3170740
rs3170740
1 16986248 missense variant C/T snv 0.47 0.41
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019