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: rs10090787
rs10090787
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 1.000 5 2003 2015
dbSNP: rs1045487
rs1045487
2 1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs10462706
rs10462706
6 0.827 0.080 5 1343679 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.333 3 2012 2015
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs1057035
rs1057035
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs10851478
rs10851478
6 0.827 0.080 15 49536822 intron variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs10972727
rs10972727
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs11130760
rs11130760
2 1.000 0.080 3 60210809 intron variant G/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 < 0.001 1 2019 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 0.500 2 2009 2019
dbSNP: rs11545028
rs11545028
3 1.000 0.080 16 78099774 5 prime UTR variant C/T snv 0.30 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11685387
rs11685387
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs11788747
rs11788747
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs11801299
rs11801299
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012