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: rs10491003
rs10491003
LINC00709 ; LOC101928272
2 10 9286688 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs12780111
rs12780111
LOC101928272
1 10 9254687 regulatory region variant G/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs11105380
rs11105380
ATP2B1
1 12 89702020 intron variant T/A snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs7206699
rs7206699
ZFPM1
1 16 88457407 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs62462685
rs62462685
PHTF2
1 7 77879316 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs7179475
rs7179475
PAQR5
1 15 69318828 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs17711722
rs17711722 		2 7 65806210 downstream gene variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs1570669
rs1570669
CYP24A1
4 0.925 0.080 20 54157888 intron variant A/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs6123359
rs6123359 		2 1.000 0.080 20 54098167 regulatory region variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs12901379
rs12901379 		1 15 50692447 downstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11101061
rs11101061 		1 10 49244632 intergenic variant T/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs4685771
rs4685771
ITPR1 ; LOC105376933
1 3 4586857 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7336933
rs7336933
LOC105370176
2 13 41984940 downstream gene variant G/A snv 0.17 0.800 1.000 1 2013 2013
dbSNP: rs3750996
rs3750996
STIM1
2 1.000 0.040 11 4091970 3 prime UTR variant A/G snv 7.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs13103813
rs13103813
DOK7
1 4 3466709 intron variant A/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs7481584
rs7481584
CARS1
2 11 3007859 non coding transcript exon variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs34339006
rs34339006
DGKD
2 1.000 0.040 2 233362876 intron variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs1550532
rs1550532
DGKD
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 1 2013 2013
dbSNP: rs12517041
rs12517041 		1 5 23301799 downstream gene variant A/G snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs12150338
rs12150338
WDR81
2 17 1730810 synonymous variant C/G;T snv 4.0E-06; 0.12 0.800 1.000 1 2010 2010
dbSNP: rs11967485
rs11967485
ARID1B
2 6 156807123 intron variant G/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs3109133
rs3109133
GPR39
1 2 132545965 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs13301969
rs13301969 		1 9 126532675 downstream gene variant C/T snv 0.33 0.700 1.000 1 2018 2018