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: rs1057516029
rs1057516029
6 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
dbSNP: rs1553610984
rs1553610984
2 0.925 0.040 3 24127622 missense variant G/C snv 0.700 0
dbSNP: rs121918690
rs121918690
3 0.882 0.040 3 24127694 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1405414838
rs1405414838
2 0.925 0.040 10 84232835 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs189261858
rs189261858
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2006 2006