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: rs1408579
rs1408579
ERLIN1
3 1.000 0.040 10 100152437 intron variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs7157599
rs7157599
DEGS2
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs6712515
rs6712515
AFF3
3 0.925 0.160 2 100190052 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs117304774
rs117304774
GRIN2A
2 1.000 0.040 16 10057377 intron variant G/A snv 8.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs221798
rs221798
GIGYF1
3 0.882 0.040 7 100689872 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs221780
rs221780 		2 1.000 0.040 7 100699412 regulatory region variant G/C;T snv 0.700 1.000 2 2017 2019
dbSNP: rs221774
rs221774 		4 0.851 0.080 7 100701361 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs506597
rs506597 		4 0.882 0.040 7 100715797 upstream gene variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs1734907
rs1734907 		4 0.925 0.080 7 100717894 upstream gene variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs7214058
rs7214058
GAS7
2 1.000 0.040 17 10080017 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs644939
rs644939
ANO4
1 1.000 0.040 12 101060211 intron variant G/A snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs13096071
rs13096071 		1 1.000 0.040 3 101082799 intergenic variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs9518320
rs9518320
NALCN
1 1.000 0.040 13 101167478 intron variant A/G snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs9518331
rs9518331
NALCN
1 1.000 0.040 13 101173903 intron variant G/T snv 0.25 0.010 < 0.001 1 2011 2011
dbSNP: rs2114724
rs2114724
DNMT1
1 1.000 0.040 19 10154572 intron variant T/C snv 0.52 0.51 0.010 1.000 1 2014 2014
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs114540395
rs114540395 		1 1.000 0.040 10 101719305 intron variant C/T snv 9.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs73191547
rs73191547
MSRA
2 1.000 0.040 8 10175915 intron variant A/T snv 0.28 0.700 1.000 3 2015 2019
dbSNP: rs782803949
rs782803949
CUX1
1 1.000 0.040 7 102178612 synonymous variant C/T snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs6039769
rs6039769
SNAP25 ; SNAP25-AS1
1 1.000 0.040 20 10218306 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs782679604
rs782679604
CUX1
1 1.000 0.040 7 102189836 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6855246
rs6855246 		4 1.000 0.040 4 102191313 intergenic variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs35225200
rs35225200 		5 1.000 0.040 4 102225731 intergenic variant A/C snv 5.4E-02 0.700 1.000 2 2017 2019
dbSNP: rs35518360
rs35518360 		1 1.000 0.040 4 102225733 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4919621
rs4919621
PITX3
4 0.851 0.080 10 102238914 intron variant A/T snv 0.66 0.010 1.000 1 2010 2010