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: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10007186
rs10007186
2 4 78667891 intron variant C/T snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs11237485
rs11237485
1 11 78414965 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs6501199
rs6501199
1 17 78338705 intron variant G/C snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs7138813
rs7138813
1 12 7580629 intergenic variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10845402
rs10845402
1 12 7545464 intergenic variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs7136716
rs7136716
6 0.851 0.080 12 7538538 regulatory region variant A/G snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs7487435
rs7487435
1 12 7531072 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10772448
rs10772448
1 12 7513784 intergenic variant T/C snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs117692263
rs117692263
1 12 7472418 intron variant T/C snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs9600129
rs9600129
1 13 73531052 intron variant G/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10997975
rs10997975
1 10 68174164 missense variant G/A;C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs1801690
rs1801690
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs147178973
rs147178973
1 17 65887477 intron variant T/C snv 2.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs11431
rs11431
1 14 54788955 3 prime UTR variant C/A;G;T snv 1.2E-05; 0.53 0.700 1.000 1 2018 2018
dbSNP: rs7147275
rs7147275
1 14 54766806 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11624106
rs11624106
1 14 54713435 intron variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11670986
rs11670986
1 19 54270639 downstream gene variant A/G snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs2361796
rs2361796
1 19 54250521 3 prime UTR variant T/G snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs2361797
rs2361797
1 19 54249685 3 prime UTR variant A/G snv 0.54 0.700 1.000 1 2014 2014
dbSNP: rs11559024
rs11559024
CKM
2 19 45317925 missense variant T/C snv 1.1E-02 1.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs9607721
rs9607721
1 22 40466116 intron variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs7208815
rs7208815
1 17 40012462 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs147140551
rs147140551
1 5 39659340 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs10162508
rs10162508
1 14 35339056 intergenic variant G/A snv 0.38 0.700 1.000 1 2018 2018