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: rs878859113
rs878859113
CD24
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs56817615
rs56817615
CLNK
4 0.882 4 10717222 intergenic variant A/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs2108225
rs2108225 		2 1.000 0.040 7 107812658 downstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10494079
rs10494079
VAV3
4 0.882 1 107832253 intron variant G/C snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs374039502
rs374039502
TNFSF13B
4 0.925 0.160 13 108308037 3 prime UTR variant T/A snv 2.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs28583049
rs28583049
LOC105374033
4 0.882 3 108724568 downstream gene variant T/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.030 0.667 3 2006 2012
dbSNP: rs6498142
rs6498142
CLEC16A
3 16 10987392 intron variant C/G snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs11043097
rs11043097
LINC02752
2 11 11114248 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs114378220
rs114378220
CAMK4
5 0.851 0.040 5 111230662 intron variant C/T snv 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1252641479
rs1252641479
ARHGEF7
2 1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7310615
rs7310615
SH2B3
12 0.882 12 111427245 intron variant C/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.800 1.000 1 2011 2011
dbSNP: rs33980500
rs33980500
TRAF3IP2 ; TRAF3IP2-AS1
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs191252491
rs191252491
ALDH2
4 0.882 12 111773070 intron variant A/T snv 7.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2018 2018
dbSNP: rs12928822
rs12928822
RMI2 ; LOC105371082
5 0.882 0.200 16 11310036 intron variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs8061370
rs8061370
RMI2 ; LOC105371082
4 0.882 16 11364614 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.710 1.000 2 2012 2015
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2012 2012
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.980 101 2005 2019