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: rs111366116
rs111366116
2 5 53999716 intron variant C/T snv 8.4E-02 0.700 1.000 2 2017 2019
dbSNP: rs11296991
rs11296991
2 5 54012825 intron variant TT/-;T;TTT delins 0.29 0.700 1.000 1 2019 2019
dbSNP: rs12186509
rs12186509
1 5 54010860 intron variant T/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs3776712
rs3776712
1 5 54008349 intron variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs7719168
rs7719168
1 5 53996560 intron variant A/C snv 8.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs7735249
rs7735249
2 5 54014309 intron variant C/G snv 9.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs79760705
rs79760705
1 5 54002886 intron variant G/T snv 8.5E-02 0.700 1.000 1 2019 2019