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: rs515726224
rs515726224
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs121909628
rs121909628
3 0.925 0.160 8 38414892 stop gained G/A;C snv 0.700 0
dbSNP: rs121909641
rs121909641
9 0.763 0.520 8 38419720 missense variant G/A snv 0.700 0
dbSNP: rs727505369
rs727505369
3 0.925 0.160 8 38424624 missense variant T/C snv 0.700 0
dbSNP: rs727505370
rs727505370
2 1.000 0.040 8 38414840 missense variant A/G snv 0.700 0
dbSNP: rs727505371
rs727505371
2 1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06 0.700 0
dbSNP: rs727505373
rs727505373
3 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0
dbSNP: rs727505376
rs727505376
2 0.925 0.160 8 38414279 missense variant C/G;T snv 0.700 0
dbSNP: rs727505377
rs727505377
1 1.000 0.040 8 38414001 missense variant A/G snv 0.700 0
dbSNP: rs1064793123
rs1064793123
1 1.000 0.040 8 38421859 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs121909640
rs121909640
2 0.925 0.160 8 38429898 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs781328162
rs781328162
2 0.925 0.160 8 38413714 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2006 2006