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: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 2 2009 2011
dbSNP: rs12946454
rs12946454
ACBD4 ; PLCD3
5 0.925 0.040 17 45130754 intron variant A/T snv 0.21 0.700 1.000 2 2009 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2009 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2009 2013
dbSNP: rs381815
rs381815
PLEKHA7
6 1.000 0.040 11 16880721 intron variant C/A;T snv 0.24 0.700 1.000 2 2009 2011
dbSNP: rs932764
rs932764
PLCE1
6 10 94136183 intron variant A/G snv 0.38 0.700 1.000 2 2009 2011
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2009 2009
dbSNP: rs10096777
rs10096777
RP1L1
2 8 10660990 intron variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs10255839
rs10255839
EVX1
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
3 11 2631427 non coding transcript exon variant T/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10850411
rs10850411 		1 12 114949991 intergenic variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs11023906
rs11023906
SOX6
3 11 16302860 intron variant G/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs11099097
rs11099097 		6 4 80246155 intergenic variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11158609
rs11158609
NEDD8 ; NEDD8-MDP1
2 14 24219608 intron variant G/A snv 0.89 0.700 1.000 1 2016 2016
dbSNP: rs1133322
rs1133322
COX5A
2 15 74920016 3 prime UTR variant A/G snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs11636952
rs11636952
LMAN1L
5 15 74821981 intron variant T/C snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs11693319
rs11693319
CCDC141
2 2 178873542 3 prime UTR variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs11953630
rs11953630 		6 5 158418394 intergenic variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs12705959
rs12705959
FOXP2
2 7 114358191 intron variant C/T snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs12899430
rs12899430
COX5A
2 15 74936759 intron variant T/C snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784
MECOM
6 3 169379112 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12940887
rs12940887
ZNF652
5 17 49325445 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011