Source: CURATED ×
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: rs1801133
rs1801133
MTHFR
6 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.760 1.000 1 2008 2017
dbSNP: rs7903146
rs7903146
TCF7L2
19 0.554 0.680 10 112998590 intron variant C/G;T snv 0.710 1.000 1 2011 2018
dbSNP: rs1006737
rs1006737
CACNA1C
7 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 1.000 3 2010 2019
dbSNP: rs115707823
rs115707823 		19 0.701 0.320 6 30374976 intergenic variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1344706
rs1344706
ZNF804A
1 0.701 0.160 2 184913701 intron variant A/C;T snv 0.900 0.873 1 2008 2019
dbSNP: rs8321
rs8321
ZNRD1
15 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs1625579
rs1625579
MIR137HG
5 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.900 0.893 2 2011 2019
dbSNP: rs1480380
rs1480380
HLA-DMB
10 0.763 0.360 6 32945469 intron variant C/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs13107325
rs13107325
SLC39A8
30 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.750 1.000 2 2015 2019
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs886424
rs886424
LINC00243
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.710 1.000 1 2012 2012
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
2 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.800 1.000 6 2013 2019
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs9371601
rs9371601
SYNE1
6 0.790 0.120 6 152469438 intron variant G/T snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs9834970
rs9834970 		5 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs8042374
rs8042374
CHRNA3
9 0.807 0.200 15 78615690 intron variant A/G snv 0.29 0.700 1.000 3 2014 2017
dbSNP: rs3131296
rs3131296
NOTCH4
6 0.807 0.320 6 32205216 intron variant C/T snv 0.11 0.810 0.667 2 2009 2014
dbSNP: rs3743078
rs3743078
CHRNA3
2 0.807 0.160 15 78602417 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7762279
rs7762279 		6 0.807 0.360 6 32787513 intergenic variant T/C snv 8.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs9268856
rs9268856
HLA-DRB9
4 0.807 0.240 6 32461942 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9275524
rs9275524 		7 0.807 0.160 6 32707332 upstream gene variant T/C snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs11191580
rs11191580
NT5C2
12 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.820 1.000 3 2011 2017
dbSNP: rs7597593
rs7597593
ZNF804A
2 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.720 1.000 3 2011 2019
dbSNP: rs10994359
rs10994359
ANK3
5 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.810 1.000 2 2011 2014