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: rs151207349
rs151207349
PRKCSH
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7676999
rs7676999 		1 1.000 0.040 4 116012923 intron variant C/T snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs3812111
rs3812111
COL10A1 ; NT5DC1
1 1.000 0.040 6 116122572 intron variant T/A snv 0.47 0.810 1.000 2 2013 2019
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1927907
rs1927907
TLR4
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.250 4 2005 2009
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2005 2008
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
dbSNP: rs17050244
rs17050244 		1 1.000 0.040 2 120525054 regulatory region variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs28360447
rs28360447
P2RX7 ; LOC105370032
1 1.000 0.040 12 121162435 stop gained G/A;T snv 1.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs28360472
rs28360472
P2RX4
1 1.000 0.040 12 121232473 missense variant A/G snv 8.7E-03 8.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs9482193
rs9482193
LOC105377979
1 1.000 0.040 6 121908390 intergenic variant G/T snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs10887142
rs10887142 		1 1.000 0.040 10 122347969 downstream gene variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11200576
rs11200576 		1 1.000 0.040 10 122358034 intergenic variant A/T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10510109
rs10510109 		1 1.000 0.040 10 122360941 intergenic variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs11200583
rs11200583 		1 1.000 0.040 10 122363954 regulatory region variant A/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs4751889
rs4751889 		1 1.000 0.040 10 122372672 upstream gene variant T/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10749466
rs10749466
PLEKHA1
1 1.000 0.040 10 122379288 intron variant A/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs11200594
rs11200594
PLEKHA1
1 1.000 0.040 10 122379877 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs11200595
rs11200595
PLEKHA1
1 1.000 0.040 10 122383113 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs7084349
rs7084349
PLEKHA1
1 1.000 0.040 10 122385624 intron variant G/A;T snv 0.700 1.000 1 2013 2013