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: 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: rs2853559
rs2853559
VDR
1 1.000 0.040 12 47889022 intron variant A/G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
7 0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs5022942
rs5022942
BMP3
1 1.000 0.040 4 81038812 intron variant A/G snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs5742632
rs5742632
IGF1 ; LINC02456
4 0.851 0.120 12 102462696 intron variant A/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs669676
rs669676
COL8A1
2 1.000 0.040 3 99730008 intron variant A/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs79002828
rs79002828
FGF10
2 0.925 0.040 5 44318015 intron variant A/G snv 9.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs869422
rs869422
ZMAT4
1 1.000 0.040 8 40866451 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
2 0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs2181346
rs2181346
LOC105370507
1 1.000 0.040 14 54085710 regulatory region variant A/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs876657380
rs876657380
ARID1B
11 0.851 0.360 6 157181155 frameshift variant AA/- delins 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs7744813
rs7744813
KCNQ5
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs10089517
rs10089517 		2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2016 2016
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: rs2155413
rs2155413
DLG2
1 1.000 0.040 11 84923746 intron variant C/A snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs3138141
rs3138141
RDH5 ; BLOC1S1-RDH5
5 0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 0.700 1.000 1 2016 2016
dbSNP: rs121912683
rs121912683
SLC25A4
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.030 1.000 3 2011 2018