ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
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: rs1555817157
rs1555817157
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.700 1.000 1 2018 2018