ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: obsolete Rod-cone dystrophy ×
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: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1303044966
rs1303044966 		0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0