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: rs4745062
rs4745062
TRPM3
1 9 71169348 intron variant C/T snv 0.40 0.800 1.000 1 2010 2010
dbSNP: rs4891159
rs4891159
ZNF516
1 18 76389985 intron variant G/A snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs5766691
rs5766691
TBC1D22A
1 22 47136753 intron variant A/G snv 0.73 0.800 1.000 1 2010 2010
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: rs6568433
rs6568433
CRYBG1
1 6 106381662 intron variant T/C snv 0.48 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: rs6915183
rs6915183 		1 6 166292681 intergenic variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs7168365
rs7168365
WDR72 ; LOC105370826
1 15 53513628 downstream gene variant C/A snv 0.37 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: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.800 1.000 1 2010 2010
dbSNP: rs7493138
rs7493138 		1 14 28552722 intergenic variant C/T snv 0.38 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: rs9517320
rs9517320
STK24
1 13 98474049 intron variant A/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs9592783
rs9592783 		1 13 71309082 intergenic variant G/A snv 0.24 0.800 1.000 1 2010 2010
dbSNP: rs9616906
rs9616906 		1 22 50666252 upstream gene variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs9664222
rs9664222 		1 10 87578876 intergenic variant A/C snv 0.84 0.800 1.000 1 2010 2010
dbSNP: rs9876781
rs9876781
CCDC51 ; ATRIP ; ATRIP-TREX1
1 3 48445934 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs10934524
rs10934524 		1 3 96431316 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10957550
rs10957550
EYA1
1 8 71382353 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11574358
rs11574358
WRN
1 8 31147066 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs12143832
rs12143832 		1 1 21378943 regulatory region variant T/C snv 0.44 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: rs12949468
rs12949468
TLK2
1 17 62516455 non coding transcript exon variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs138762279
rs138762279 		1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019