Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7