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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 2 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1553759139
rs1553759139
5 0.925 0.400 3 167687610 splice region variant C/T snv 0.700 0
dbSNP: rs11545664
rs11545664
ENG
4 0.925 0.120 9 127843106 synonymous variant C/T snv 9.3E-02 0.14 0.010 1.000 1 2013 2013
dbSNP: rs201393380
rs201393380
4 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.010 1.000 1 2013 2013