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 3 2011 2013
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 2 2011 2013
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 2 2011 2011
dbSNP: rs1421811
rs1421811
NPR3
2 5 32714164 intron variant C/G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 2 2011 2011
dbSNP: rs16948048
rs16948048
ZNF652 ; LOC102724596
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2019
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2011 2011
dbSNP: rs10143078
rs10143078
COX16 ; SYNJ2BP ; SYNJ2BP-COX16
2 14 70414772 intron variant A/C snv 6.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs10197121
rs10197121
RRM2
1 2 10153562 intron variant C/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10555137
rs10555137
CASC8
1 8 127457345 intron variant C/T snv 6.6E-02 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 2011 2011
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2011 2011
dbSNP: rs11105354
rs11105354
ATP2B1
3 12 89632746 intron variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs11160059
rs11160059
SLC24A4
1 14 92340986 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs11168245
rs11168245
HDAC7
2 1.000 0.040 12 47810716 intron variant C/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1156725
rs1156725
SOX6
3 11 16286154 intron variant C/T snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs11659639
rs11659639 		1 18 60500379 intron variant T/G snv 1.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs11771259
rs11771259
C1GALT1
3 1.000 0.040 7 7237584 intron variant C/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs11825181
rs11825181
BUD13
2 11 116755542 intron variant G/A snv 0.10 0.700 1.000 1 2011 2011
dbSNP: rs12067906
rs12067906 		1 1 192462868 intron variant T/C snv 0.12 0.800 1.000 1 2012 2012