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: rs12513649
rs12513649 		6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs13447075
rs13447075
PVT1
4 0.882 0.120 8 127998344 non coding transcript exon variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs142864856
rs142864856 		2 1.000 0.080 2 151100757 intergenic variant CA/-;CACA;CACACA;CACACACA delins 0.700 1.000 1 2018 2018
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs147372871
rs147372871
LRIG1 ; SLC25A26
1 1.000 0.080 3 66386050 missense variant G/A;T snv 2.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484
DPEP1
3 1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs1516792
rs1516792
IL1A
2 0.925 0.080 2 112778356 intron variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs161740
rs161740
CHD1
3 0.882 0.200 5 98869326 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs16942751
rs16942751
AQP4-AS1
3 1.000 0.080 18 26813249 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17089362
rs17089362
CNDP2
3 0.882 0.160 18 74518403 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs174548
rs174548
FADS1 ; FADS2
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174557
rs174557
FADS1 ; FADS2
2 1.000 0.080 11 61813896 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174567
rs174567
FADS1 ; FADS2
4 1.000 0.080 11 61825533 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174568
rs174568
FADS1 ; FADS2
4 1.000 0.080 11 61826344 missense variant C/A;T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs174576
rs174576
FADS2
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs174580
rs174580
FADS2
4 1.000 0.080 11 61839170 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs174581
rs174581
FADS2
4 0.925 0.160 11 61839211 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs174594
rs174594
FADS2
14 0.776 0.160 11 61852357 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1801239
rs1801239
CUBN
8 0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06 0.010 1.000 1 2019 2019