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: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs2303933
rs2303933
SLC4A2
1 1.000 0.080 7 151069712 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs35730843
rs35730843
POLR2G
2 0.925 0.080 11 62760162 upstream gene variant A/C;G snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs484600
rs484600
IL12A-AS1
1 1.000 0.080 3 160012174 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs531963580
rs531963580
MAPT
1 1.000 0.080 17 45986357 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs6462562
rs6462562
SDK1
1 1.000 0.080 7 4048923 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs9901937
rs9901937
MAPT
1 1.000 0.080 17 45986357 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs243323
rs243323
RMI2 ; LOC105371082
1 1.000 0.080 16 11267345 intron variant A/C;G;T snv 0.700 1.000 2 2012 2012
dbSNP: rs13106325
rs13106325
MANBA
1 1.000 0.080 4 102633835 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs241041
rs241041
LINC02210 ; LINC02210-CRHR1
3 0.925 0.120 17 45636559 non coding transcript exon variant A/C;G;T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11650661
rs11650661
ZPBP2
1 1.000 0.080 17 39870033 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs228615
rs228615
MANBA
1 1.000 0.080 4 102658303 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs243317
rs243317
RMI2 ; LOC105371082
1 1.000 0.080 16 11263474 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs582054
rs582054
IL12A ; IL12A-AS1
5 0.882 0.160 3 159992214 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3745516
rs3745516
SPIB
2 0.925 0.080 19 50423485 intron variant A/G snv 0.62 0.800 1.000 3 2010 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
dbSNP: rs3732421
rs3732421
TMEM39A
1 1.000 0.080 3 119431242 3 prime UTR variant A/G snv 0.15 0.800 1.000 2 2011 2017
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.800 1.000 2 2009 2010
dbSNP: rs7665090
rs7665090
MANBA
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.800 1.000 2 2011 2012
dbSNP: rs8067378
rs8067378 		12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.800 1.000 2 2012 2012
dbSNP: rs1008591
rs1008591 		1 1.000 0.080 19 46227357 upstream gene variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs10234405
rs10234405
SDK1
1 1.000 0.080 7 4034827 intron variant A/G snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs10415976
rs10415976
ARID3A
1 1.000 0.080 19 941603 intron variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs1052590
rs1052590
MAPT
1 1.000 0.080 17 46025272 3 prime UTR variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
MAPT ; STH
3 0.925 0.120 17 45998535 intron variant A/G snv 0.15 0.700 1.000 1 2012 2012