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: rs140859855
rs140859855
CRLF2
1 1.000 0.080 Y 1212602 synonymous variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs320995
rs320995
CYSLTR1
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.060 1.000 6 2006 2009
dbSNP: rs2806489
rs2806489
CYSLTR1
2 1.000 0.080 X 78327951 upstream gene variant C/T snv 0.020 0.500 2 2009 2017
dbSNP: rs12007907
rs12007907
IL1RAPL1
1 1.000 0.080 X 29465775 intron variant C/A snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs2280964
rs2280964
CXCR3
3 0.882 0.200 X 71618204 intron variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2407992
rs2407992
TLR8 ; TLR8-AS1
4 0.882 0.200 X 12920993 synonymous variant G/A;C snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs5953283
rs5953283
PPP1R3F
2 0.925 0.080 X 49283326 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs850637
rs850637 		2 0.925 0.080 X 13005622 intergenic variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs2284033
rs2284033
IL2RB
7 0.790 0.160 22 37137994 intron variant G/A snv 0.43 0.810 1.000 3 2010 2012
dbSNP: rs10048897
rs10048897
LINC00528
1 1.000 0.080 22 17777938 non coding transcript exon variant T/C snv 9.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs1034395178
rs1034395178
LZTR1
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs138335
rs138335
ST13
1 1.000 0.080 22 40831082 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs138337
rs138337
ST13
1 1.000 0.080 22 40835049 intron variant A/G snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs5758364
rs5758364
PHF5A
1 1.000 0.080 22 41459908 3 prime UTR variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs9620247
rs9620247 		1 1.000 0.080 22 23333616 intergenic variant G/A snv 3.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.020 0.500 2 2004 2011
dbSNP: rs1736135
rs1736135
LOC101927745
4 0.851 0.160 21 15432901 intron variant T/C snv 0.33 0.700 1.000 2 2011 2011
dbSNP: rs11088309
rs11088309
RUNX1
2 0.925 0.080 21 35092334 intron variant C/A;G snv 9.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2012075
rs2012075
IFNGR2
1 1.000 0.080 21 33424455 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2834787
rs2834787
RUNX1
1 1.000 0.080 21 35130261 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs4819388
rs4819388
ICOSLG
9 0.790 0.240 21 44227538 3 prime UTR variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs7281353
rs7281353
LINC01425
1 1.000 0.080 21 21779123 intron variant C/G snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs762421
rs762421
GATD3A
4 0.851 0.360 21 44195678 intron variant G/A snv 0.700 1.000 1 2011 2011