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: rs1416280
rs1416280 		1 6 102438768 intergenic variant C/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs6568433
rs6568433
CRYBG1
1 6 106381662 intron variant T/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs1327533
rs1327533
SVEP1
1 9 110368883 intron variant T/G snv 8.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs4639950
rs4639950
MFRP ; C1QTNF5
1 11 119345845 missense variant T/C snv 4.0E-03 1.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs6489785
rs6489785 		3 1.000 0.040 12 120925921 TF binding site variant T/C snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs3830412
rs3830412
KALRN
1 3 124678475 non coding transcript exon variant T/- delins 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1262476
rs1262476
LOC105377992
2 6 126665850 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2292664
rs2292664
RIMBP2
1 12 130437119 missense variant G/A;C snv 9.2E-06; 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs3847687
rs3847687
ADGRD1
1 12 131040508 intron variant C/A;T snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs7315621
rs7315621 		1 12 131600651 upstream gene variant G/A snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs7894051
rs7894051
ECHS1
1 10 133370917 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs145672791
rs145672791 		1 21 13377702 intergenic variant G/A snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs4732038
rs4732038
AKR1B15
1 7 134565570 intron variant A/C snv 0.51 0.52 0.800 1.000 1 2010 2010
dbSNP: rs7874142
rs7874142
COL5A1
1 9 134812936 intron variant G/A snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs6813479
rs6813479 		1 4 136739228 intergenic variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs13118159
rs13118159
UVSSA
1 4 1371339 intron variant T/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs2758603
rs2758603
PMF1 ; PMF1-BGLAP
2 1 156229203 intron variant T/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs2149954
rs2149954
LINC02227
5 0.882 0.080 5 158393594 intron variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs1425609
rs1425609 		1 3 162964207 intergenic variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs6915183
rs6915183 		1 6 166292681 intergenic variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs138762279
rs138762279 		1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019
dbSNP: rs4721135
rs4721135
MAD1L1
1 7 1872586 intron variant A/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs2440012
rs2440012
ANKRD20A9P
1 13 18865983 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
2 16 2047157 non coding transcript exon variant G/A snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs12143832
rs12143832 		1 1 21378943 regulatory region variant T/C snv 0.44 0.700 1.000 1 2019 2019