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: rs10481172
rs10481172
1 8 128993202 intron variant A/G snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs10956483
rs10956483
3 8 129559864 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11327184
rs11327184
4 8 129592027 intron variant C/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs1982094
rs1982094
5 8 129612570 intron variant C/T snv 4.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs2719209
rs2719209
1 8 129415405 intron variant C/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs397731840
rs397731840
5 8 129599504 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs4562281
rs4562281
1 8 129639400 intron variant C/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs7840212
rs7840212
1 8 129587001 non coding transcript exon variant C/T snv 0.40 0.700 1.000 1 2019 2019