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: rs104894721
rs104894721
1 1.000 0.080 19 41342230 missense variant G/A snv 0.740 1.000 4 2003 2014
dbSNP: rs104894719
rs104894719
1 1.000 0.080 19 41342209 missense variant A/G snv 0.710 1.000 1 2001 2001
dbSNP: rs200482214
rs200482214
3 0.882 0.200 19 41348345 missense variant G/A snv 2.8E-05 0.710 1.000 1 2013 2013
dbSNP: rs281865484
rs281865484
1 1.000 0.080 19 41348306 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs104894720
rs104894720
1 1.000 0.080 19 41342229 missense variant C/T snv 0.700 0
dbSNP: rs104894722
rs104894722
1 1.000 0.080 19 41342215 missense variant A/C;G;T snv 0.700 0
dbSNP: rs111033611
rs111033611
1 1.000 0.080 19 41352804 missense variant A/G snv 0.700 0
dbSNP: rs281865483
rs281865483
1 1.000 0.080 19 41353006 inframe insertion -/AGCAGCAGC delins 7.5E-06 0.700 0
dbSNP: rs281865485
rs281865485
1 1.000 0.080 19 41342218 missense variant G/C snv 0.700 0
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.020 1.000 2 2010 2013