Source: ALL
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: rs4718789
rs4718789 		2 0.925 0.120 7 68579188 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs4978818
rs4978818
PTPN3 ; PALM2AKAP2
2 0.925 0.120 9 109509949 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7863010
rs7863010 		1 1.000 0.080 9 109341518 regulatory region variant T/C snv 0.86 0.700 1.000 1 2017 2017
dbSNP: rs10901425
rs10901425
MMP21
4 0.851 0.200 10 125773956 missense variant A/G snv 0.76 0.78 0.010 1.000 1 2018 2018
dbSNP: rs1204828
rs1204828
NT5DC1
1 1.000 0.080 6 116244975 3 prime UTR variant A/C;G snv 0.010 1.000 1 2013 2013