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: rs10887265
rs10887265
RGR
1 1.000 0.040 10 84255817 intron variant G/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10892173
rs10892173
FXYD2 ; DSCAML1 ; LOC107984394
1 1.000 0.040 11 117801846 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs10936538
rs10936538 		1 1.000 0.040 3 167439281 downstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11145488
rs11145488
TJP2
1 1.000 0.040 9 69156023 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs11218544
rs11218544
MIR100HG
1 1.000 0.040 11 122168344 intron variant T/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11606250
rs11606250
LRRC4C
1 1.000 0.040 11 40127750 intron variant G/A snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs11658305
rs11658305 		1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11873439
rs11873439
CCDC102B
2 1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs12193446
rs12193446
LAMA2 ; LOC102723409
3 0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12423791
rs12423791
IGF1
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs12517396
rs12517396
FGF10
1 1.000 0.040 5 44359424 intron variant C/A snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs12603825
rs12603825
SERPINF1
1 1.000 0.040 17 1770111 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12716080
rs12716080
CTNND2
3 0.882 0.040 5 11166836 intron variant G/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs12965607
rs12965607
MYO5B
1 1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01 0.700 1.000 1 2016 2016
dbSNP: rs13129838
rs13129838
OR7E94P ; LINC00989 ; LOC107986294
1 1.000 0.040 4 79587634 non coding transcript exon variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs131451
rs131451
MMP11 ; LOC107985577
4 0.882 0.120 22 23771357 intron variant C/T snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs13380104
rs13380104
RASGRF1
1 1.000 0.040 15 79086479 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1370156
rs1370156 		1 1.000 0.040 15 34692682 intergenic variant G/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1556867
rs1556867 		1 1.000 0.040 1 164244449 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1585471
rs1585471 		1 1.000 0.040 4 111781479 regulatory region variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1635529
rs1635529
COL2A1
2 0.925 0.040 12 48001319 intron variant T/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs17122571
rs17122571
LOC105369750
2 0.925 0.040 12 48027251 upstream gene variant A/G snv 8.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs17428076
rs17428076
SLC25A12
1 1.000 0.040 2 171987022 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016