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: rs121913129
rs121913129
1 1.000 0.080 4 4862836 missense variant G/C snv 0.800 1.000 2 1996 2002
dbSNP: rs121913130
rs121913130
1 1.000 0.080 4 4860099 missense variant T/A;C snv 0.800 1.000 2 1996 2002
dbSNP: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs2034604
rs2034604
8 0.776 0.160 2 143201176 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35822372
rs35822372
8 0.776 0.160 2 88438931 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35956082
rs35956082
8 0.776 0.160 3 71414748 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4498834
rs4498834
8 0.776 0.160 1 201111170 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs55846652
rs55846652
8 0.776 0.160 X 69564858 downstream gene variant T/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs758468472
rs758468472
8 0.776 0.160 17 67718094 splice region variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs917412
rs917412
8 0.776 0.160 4 108350621 TF binding site variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs104893850
rs104893850
1 1.000 0.080 4 4862808 stop gained C/T snv 0.700 0
dbSNP: rs104893852
rs104893852
1 1.000 0.080 4 4860231 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs1553877821
rs1553877821
1 1.000 0.080 4 4859979 frameshift variant -/A delins 0.700 0