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: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 4 2011 2019
dbSNP: rs12619285
rs12619285
LOC102725082
3 1.000 0.040 2 212959321 intron variant A/G snv 0.31 0.800 1.000 3 2009 2019
dbSNP: rs4328821
rs4328821 		3 3 128597592 intergenic variant A/G snv 0.13 0.800 1.000 3 2011 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2009 2016
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.800 1.000 1 2009 2009
dbSNP: rs2416257
rs2416257
WDR36
5 0.882 0.160 5 111099792 intron variant C/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs2516399
rs2516399 		3 0.925 0.120 6 31513522 upstream gene variant A/G snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs331615
rs331615 		1 20 57063481 intergenic variant T/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs4143832
rs4143832 		4 0.925 0.080 5 132527285 intron variant T/G snv 0.76 0.800 1.000 1 2009 2009
dbSNP: rs4857855
rs4857855 		1 3 128541707 downstream gene variant C/T snv 0.18 0.800 1.000 1 2009 2009
dbSNP: rs9373124
rs9373124
HBS1L
3 6 135102071 intron variant T/C snv 0.33 0.800 1.000 1 2011 2011
dbSNP: rs10062687
rs10062687
ANKRD33B
1 5 10624754 missense variant T/G snv 0.18 0.20 0.700 1.000 2 2016 2019
dbSNP: rs1036332
rs1036332
LINC01221
3 1 199043349 intron variant A/C snv 0.70 0.700 1.000 2 2016 2019
dbSNP: rs1057258
rs1057258
INPP5D
3 2 233206983 3 prime UTR variant C/T snv 0.30 0.700 1.000 2 2016 2019
dbSNP: rs10893844
rs10893844 		2 11 128315955 regulatory region variant G/C snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs11204682
rs11204682
ENSA
4 1 150623061 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs112401631
rs112401631 		8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs113473633
rs113473633
NFKB1
4 1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs114269697
rs114269697
JAK1
3 1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03 0.700 1.000 2 2016 2019
dbSNP: rs11555542
rs11555542
ASB2
2 14 93951185 missense variant T/C snv 3.3E-02 3.7E-02 0.700 1.000 2 2016 2019
dbSNP: rs12440045
rs12440045 		6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 2 2016 2019
dbSNP: rs12705849
rs12705849
LOC107986837
1 7 113142501 intron variant G/A snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs12820863
rs12820863 		2 12 4209557 intergenic variant C/T snv 0.27 0.700 1.000 2 2016 2019
dbSNP: rs13089722
rs13089722 		1 3 128587914 regulatory region variant G/A snv 0.11 0.700 1.000 2 2017 2019
dbSNP: rs150640087
rs150640087
IKZF1
2 7 50376454 intron variant G/T snv 1.0E-02 0.700 1.000 2 2016 2019