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: rs137853336
rs137853336
5 0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.020 1.000 2 2016 2019
dbSNP: rs753285226
rs753285226
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs952497863
rs952497863
4 0.925 0.080 20 44414511 missense variant C/T snv 0.020 1.000 2 2014 2016
dbSNP: rs1240512008
rs1240512008
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs3818247
rs3818247
3 0.925 0.080 20 44428840 intron variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs753476712
rs753476712
2 1.000 0.040 20 44418452 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs754907741
rs754907741
2 1.000 0.040 20 44414567 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs763010207
rs763010207
3 0.925 0.080 20 44414531 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs773661614
rs773661614
3 0.925 0.080 20 44406076 missense variant G/A snv 8.0E-06 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs779271027
rs779271027
2 1.000 0.040 20 44413723 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2000 2000