Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1553417206
EXOC6B
1.000 2 72465341 splice acceptor variant T/C snv 2