Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033272
rs111033272
7 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
dbSNP: rs121909398
rs121909398
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 0
dbSNP: rs1553348960
rs1553348960
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs753994107
rs753994107
3 0.925 0.080 2 181603835 splice donor variant A/C;T snv 0.700 0