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: rs1697421
rs1697421
3 1 21496799 intergenic variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17265703
rs17265703
4 3 122329797 intron variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs2970818
rs2970818
2 12 4497002 intron variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs9469578
rs9469578
2 6 33738702 intron variant C/T snv 0.11 0.800 1.000 1 2010 2010
dbSNP: rs947583
rs947583
2 6 135812521 non coding transcript exon variant T/C snv 0.27 0.800 1.000 1 2010 2010
dbSNP: rs1106357
rs1106357
3 1 21490592 intergenic variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs12368351
rs12368351
2 12 4426615 downstream gene variant G/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs17060705
rs17060705
2 6 131765353 TF binding site variant G/A snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs178710
rs178710
2 X 22032916 5 prime UTR variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs2275360
rs2275360
2 1 21617327 synonymous variant G/A snv 0.32 0.26 0.700 1.000 1 2018 2018
dbSNP: rs2275372
rs2275372
2 1 21573903 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs35186465
rs35186465
2 17 68685441 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs35716097
rs35716097
3 5 177379635 intron variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs3903005
rs3903005
2 12 12010749 intergenic variant C/G snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs4074995
rs4074995
4 5 177370342 intron variant G/A snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs453639
rs453639
2 6 131728517 intron variant C/A snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs73743323
rs73743323
2 6 33737578 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018