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: rs121913495
rs121913495
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.800 1.000 1 2003 2003
dbSNP: rs11554273
rs11554273
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.800 0
dbSNP: rs1057518907
rs1057518907
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs137854530
rs137854530
8 0.776 0.240 20 58891727 start lost A/G;T snv 0.700 0
dbSNP: rs200945454
rs200945454
2 0.925 0.040 4 147542593 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs28926182
rs28926182
1 1.000 0.040 18 13884686 missense variant A/C;T snv 5.8E-03; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs757196717
rs757196717
2 0.925 0.040 8 26770273 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs767958027
rs767958027
2 0.925 0.040 2 96114892 missense variant A/T snv 0.010 1.000 1 2013 2013