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: rs3858092
rs3858092
LOC105376157
1 1.000 0.120 9 95529166 regulatory region variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs4132699
rs4132699
SEMA4D
2 0.925 0.120 9 89421512 intron variant A/C snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2283487
rs2283487 		2 0.925 0.120 16 3919885 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs28689133
rs28689133
LOC105376157
1 1.000 0.120 9 95531283 intergenic variant A/C;G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7566780
rs7566780 		3 0.882 0.120 2 16548089 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6126344
rs6126344
SALL4
2 0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs1038294
rs1038294
COL8A1
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs11624283
rs11624283 		3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1588366
rs1588366
TANC2
2 0.925 0.120 17 62999067 regulatory region variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs1838105
rs1838105
GOSR2 ; LRRC37A2
2 0.925 0.120 17 46931569 non coding transcript exon variant A/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs188681640
rs188681640
LINC02476
1 1.000 0.120 7 119506105 intron variant A/G snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1907989
rs1907989 		2 0.925 0.120 4 4817198 upstream gene variant A/G snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs2240307
rs2240307
AXIN2
3 0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs28434654
rs28434654
LOC105376157
1 1.000 0.120 9 95524196 intergenic variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs6072081
rs6072081
LOC102724968
4 0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 0.700 1.000 1 2017 2017
dbSNP: rs6585429
rs6585429
VAX1
2 0.925 0.120 10 117133720 3 prime UTR variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs72728734
rs72728734
CCDC26
3 0.882 0.120 8 128921474 intron variant A/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs74819164
rs74819164 		1 1.000 0.120 2 147748280 intergenic variant A/G snv 7.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7552
rs7552
CYRIA
3 0.882 0.120 2 16552660 splice region variant A/G snv 0.44 0.700 1.000 1 2017 2017