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: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs17779747
rs17779747 		2 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs386418
rs386418 		1 1.000 0.040 Y 3213255 intergenic variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs7208480
rs7208480 		1 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs876188
rs876188 		1 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs73598374
rs73598374
ADA
8 0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs3730070
rs3730070
ADCY6
2 0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.020 1.000 2 2016 2016
dbSNP: rs1427407
rs1427407
BCL11A
6 0.827 0.120 2 60490908 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs149767043
rs149767043
C20orf194
1 1.000 0.040 20 3343726 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs786205745
rs786205745
CACNA1C
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs786205753
rs786205753
CACNA1C
3 0.925 0.080 12 2593255 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs80315385
rs80315385
CACNA1C
3 0.882 0.200 12 2504932 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs192749597
rs192749597
CACNA1C ; CACNA1C-AS1
3 0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs755221106
rs755221106
CACNA1G
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3734960
rs3734960
DPP6
2 0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 0.010 1.000 1 2019 2019
dbSNP: rs730880082
rs730880082
DSP
3 0.882 0.120 6 7576986 stop gained C/G;T snv 0.700 0
dbSNP: rs587777598
rs587777598
ELOVL4
4 0.851 0.200 6 79921662 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2012 2012