Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554879741
PSAP
0.851 0.120 10 71819093 stop gained C/A snv 4
rs121918106
PSAP
0.925 0.120 10 71851221 start lost T/A;C snv 1.3E-05; 6.5E-06 2