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: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 3 2018 2018
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 3 2011 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 3 2015 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: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 3 2016 2018
dbSNP: rs1105956
rs1105956 		2 6 126825734 intron variant G/A snv 0.44 0.700 1.000 2 2018 2018
dbSNP: rs111478946
rs111478946
ATP2B1
4 12 89665065 intron variant G/A snv 0.14 0.700 1.000 2 2018 2018
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 2 2017 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: rs1401982
rs1401982
ATP2B1
4 12 89595822 intron variant G/A snv 0.60 0.700 1.000 2 2018 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: rs17514846
rs17514846
FURIN
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 2 2016 2018
dbSNP: rs1887320
rs1887320 		6 20 10985350 intron variant G/A snv 0.46 0.700 1.000 2 2016 2018
dbSNP: rs2048765
rs2048765
HDAC4
2 2 239286459 intron variant A/G snv 9.6E-02 0.700 1.000 2 2018 2018
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: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs284844
rs284844
WBP1L
3 10 102794772 intron variant A/G snv 0.82 0.700 1.000 2 2017 2018
dbSNP: rs34327
rs34327
CDKN1B
3 12 12720814 intron variant T/C snv 0.50 0.700 1.000 2 2018 2018
dbSNP: rs35021474
rs35021474
KCNK3
4 2 26693976 intron variant C/G snv 0.48 0.700 1.000 2 2018 2018
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 2 2018 2018
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 2 2017 2018