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: rs11117420
rs11117420
LINC02132
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11217020
rs11217020
DDX6
1 1.000 0.040 11 118768644 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs112846137
rs112846137 		4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs11724804
rs11724804
DGKQ
4 0.882 0.160 4 971991 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1217393
rs1217393
AP4B1-AS1
4 0.851 0.160 1 113891324 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12534421
rs12534421
TNPO3
1 1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs13101828
rs13101828
DGKQ
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352
TNPO3
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs13389408
rs13389408
STAT4
4 0.851 0.160 2 191068557 3 prime UTR variant T/C snv 7.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1521
rs1521 		3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs16832798
rs16832798
NAB1
1 1.000 0.040 2 190669646 intron variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs17340351
rs17340351 		2 0.925 0.040 7 129068743 upstream gene variant T/A snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs17424921
rs17424921 		1 1.000 0.040 7 129068068 upstream gene variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs193107685
rs193107685 		4 0.851 0.160 7 74123572 downstream gene variant T/C snv 1.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs204999
rs204999 		13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs2071295
rs2071295
TNXB
2 0.925 0.120 6 32070923 intron variant C/T snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2075800
rs2075800
HSPA1L
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2201584
rs2201584
IL12RB2
1 1.000 0.040 1 67322032 intron variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2239689
rs2239689
TNXB
2 0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25 0.700 1.000 1 2010 2010