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: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 4 2009 2012
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.800 1.000 3 2009 2019
dbSNP: rs17534202
rs17534202 		7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.700 1.000 2 2016 2019
dbSNP: rs28601761
rs28601761 		13 1.000 0.040 8 125487789 intron variant C/G snv 0.37 0.700 1.000 2 2016 2019
dbSNP: rs62435145
rs62435145 		8 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 0.700 1.000 2 2016 2019
dbSNP: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs1046276
rs1046276
CTF1
3 1.000 0.040 16 30903305 3 prime UTR variant T/C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs10498725
rs10498725
CARMIL1
3 1.000 0.040 6 25454787 intron variant C/T snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs11748327
rs11748327 		2 1.000 0.080 5 4029676 downstream gene variant C/T snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12133576
rs12133576
DR1
3 1.000 0.040 1 93350843 intron variant A/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs12191243
rs12191243 		3 1.000 0.040 6 135125688 intergenic variant C/G snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12315434
rs12315434
R3HDM2
2 1.000 0.040 12 57387153 intron variant A/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs12509595
rs12509595 		10 1.000 0.080 4 80261400 intergenic variant T/C snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs12669559
rs12669559
IKZF1
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2009 2009
dbSNP: rs12734374
rs12734374
ASH1L
2 1.000 0.080 1 155419060 intron variant A/T snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs13146355
rs13146355
SHROOM3
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13194491
rs13194491 		5 1.000 0.040 6 27069301 intergenic variant C/T snv 4.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs13389219
rs13389219
COBLL1
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs1461729
rs1461729
LOC157273
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs2069443
rs2069443
CDK5 ; SLC4A2
2 1.000 0.080 7 151058086 intron variant T/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs2577831
rs2577831
PBRM1
2 1.000 0.040 3 52594040 intron variant C/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs347519
rs347519
KCNN4
2 1.000 0.080 19 43769364 synonymous variant T/C snv 0.24 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3617
rs3617
ITIH3
3 1.000 0.040 3 52799789 missense variant C/A snv 0.48 0.54 0.700 1.000 1 2016 2016