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: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2003 2019
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.040 0.750 4 1998 2014
dbSNP: rs6136
rs6136
SELP
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2002 2014
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1188254133
rs1188254133
VEGFA
4 0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1544935
rs1544935 		3 0.925 0.160 6 39156672 intergenic variant T/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs16936752
rs16936752
WNK2
2 0.925 0.120 9 93301408 intron variant T/G snv 8.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs1870634
rs1870634 		4 0.851 0.080 10 43985363 downstream gene variant T/G snv 0.59 0.700 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs2284659
rs2284659
SOD3
3 0.882 0.160 4 24793175 intron variant T/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2296086
rs2296086
TAF4
1 1.000 0.080 20 62009016 non coding transcript exon variant T/G snv 0.15 0.11 0.700 1.000 1 2011 2011
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 < 0.001 1 2008 2008
dbSNP: rs3744700
rs3744700
CXCL16
3 0.882 0.080 17 4734715 intron variant T/G snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 < 0.001 1 2008 2008
dbSNP: rs805304
rs805304
CLIC1 ; DDAH2
5 0.851 0.240 6 31730311 5 prime UTR variant T/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs8123
rs8123
CXCL16 ; MED11
1 1.000 0.080 17 4733270 3 prime UTR variant T/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.020 1.000 2 2014 2018
dbSNP: rs10776909
rs10776909
RXRA
2 0.925 0.160 9 134396900 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1135402763
rs1135402763
APOB
1 1.000 0.080 2 21032540 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2011 2011
dbSNP: rs150629733
rs150629733
AGTR1
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1548357
rs1548357
TXNRD2
1 1.000 0.080 22 19890839 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1638021
rs1638021
PTPRN2
1 1.000 0.080 7 157645345 intron variant T/C;G snv 0.700 1.000 1 2011 2011