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: rs118192212
rs118192212
2 1.000 20 63439613 inframe deletion AGAA/A in-del 0.700 1 2015 2015
dbSNP: rs397514582
rs397514582
3 1.000 20 63439656 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs794727740
rs794727740
4 0.878 0.071 20 63442429 missense variant C/G,T snp 0.700 1 2015 2015
dbSNP: rs797044938
rs797044938
2 20 63442529 missense variant C/A,G snp 0.700 1 2015 2015
dbSNP: rs118192211
rs118192211
10 0.784 0.071 20 63439644 missense variant G/A,C snp 0.010 1.000 1 2014 2014
dbSNP: rs28939683
rs28939683
6 0.821 0.107 20 63439674 missense variant T/C snp 0.010 1.000 1 2014 2014
dbSNP: rs74315390
rs74315390
11 0.744 0.107 20 63439609 missense variant C/G,T snp 0.010 1.000 1 2008 2008