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: rs587777618
rs587777618
4 0.925 12 4299977 missense variant A/G snv 0.800 1.000 1 2014 2014
dbSNP: rs587777620
rs587777620
1 1.000 12 4299978 missense variant C/A;T snv 4.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs587777622
rs587777622
1 1.000 12 4299981 missense variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs777786993
rs777786993
1 1.000 12 4299990 missense variant T/C;G snv 0.800 1.000 1 2014 2014
dbSNP: rs587777619
rs587777619
1 1.000 12 4299947 stop gained A/T snv 0.700 0
dbSNP: rs587777621
rs587777621
2 1.000 12 4299980 missense variant C/G;T snv 7.0E-06 0.700 0