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: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.700 1.000 4 2011 2018
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 3 2011 2018
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 3 2011 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 3 2011 2018
dbSNP: rs1458038
rs1458038 		10 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.700 1.000 3 2011 2018
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 3 2011 2018
dbSNP: rs13139571
rs13139571
GUCY1A1 ; LOC107984032
9 1.000 0.040 4 155724361 intron variant C/A snv 0.22 0.700 1.000 2 2011 2018
dbSNP: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 2 2011 2018
dbSNP: rs1446468
rs1446468 		4 2 164106976 intron variant T/C snv 0.40 0.700 1.000 2 2011 2018
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2016
dbSNP: rs17608766
rs17608766
GOSR2 ; LRRC37A2
8 1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02 0.700 1.000 2 2011 2016
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 2 2011 2018
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2011 2016
dbSNP: rs12258967
rs12258967
CACNB2
5 10 18439030 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12940887
rs12940887
ZNF652
5 17 49325445 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs13082711
rs13082711 		5 3 27496418 intergenic variant T/C snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs198846
rs198846
H1-6
7 6 26107235 downstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2782980
rs2782980
LOC105378492
4 10 114021768 regulatory region variant T/C snv 0.66 0.700 1.000 1 2011 2011
dbSNP: rs319690
rs319690
MAP4
4 3 47885994 intron variant T/C snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs381815
rs381815
PLEKHA7
6 1.000 0.040 11 16880721 intron variant C/A;T snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs419076
rs419076
MECOM
6 3 169383098 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs4590817
rs4590817
CABCOCO1
5 10 61707795 intron variant G/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs6015450
rs6015450
ZNF831
7 20 59176062 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs9313772
rs9313772
LINC02227
2 5 158377449 intron variant C/T snv 0.30 0.700 1.000 1 2011 2011