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: 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: rs2704588
rs2704588
FAM13A ; LOC105377327
1 4 88928621 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2758603
rs2758603
PMF1 ; PMF1-BGLAP
2 1 156229203 intron variant T/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs2826891
rs2826891
NCAM2
1 21 21537795 intron variant C/T snv 0.43 0.47 0.800 1.000 1 2010 2010
dbSNP: rs2882281
rs2882281 		1 13 89970201 intergenic variant C/A;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs3106598
rs3106598 		1 13 61104778 intron variant G/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs35262860
rs35262860
RP1
1 8 54566349 intron variant -/CT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3830412
rs3830412
KALRN
1 3 124678475 non coding transcript exon variant T/- delins 0.16 0.700 1.000 1 2019 2019
dbSNP: rs3847687
rs3847687
ADGRD1
1 12 131040508 intron variant C/A;T snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs4148546
rs4148546
ABCC4
1 13 95028031 intron variant G/A snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs432203
rs432203
TGFA
1 2 70537556 intron variant C/A snv 0.58 0.800 1.000 1 2010 2010
dbSNP: rs4468878
rs4468878
CDH4
1 20 61353181 intron variant T/C snv 0.51 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: rs4721135
rs4721135
MAD1L1
1 7 1872586 intron variant A/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs4732038
rs4732038
AKR1B15
1 7 134565570 intron variant A/C snv 0.51 0.52 0.800 1.000 1 2010 2010
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: rs4904670
rs4904670
NRDE2
1 14 90303866 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs5766691
rs5766691
TBC1D22A
1 22 47136753 intron variant A/G snv 0.73 0.800 1.000 1 2010 2010
dbSNP: rs61856137
rs61856137
AKR1C3 ; LOC107984198
1 10 5045786 intron variant G/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs62127362
rs62127362
CEP89
1 19 32967573 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs6568433
rs6568433
CRYBG1
1 6 106381662 intron variant T/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs6740706
rs6740706
LRRFIP1
1 2 237719866 intron variant C/T snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs6813479
rs6813479 		1 4 136739228 intergenic variant T/A;C snv 0.800 1.000 1 2010 2010