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: rs1128249
rs1128249
10 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs543874
rs543874
11 1.000 0.080 1 177920345 upstream gene variant A/G snv 0.21 0.700 1.000 2 2016 2019
dbSNP: rs1046080
rs1046080
2 1.000 0.120 6 31628105 missense variant C/A snv 0.79 0.74 0.700 1.000 1 2019 2019
dbSNP: rs10749233
rs10749233
1 10 117018487 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10838137
rs10838137
1 11 43613423 intron variant A/C snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs10921288
rs10921288
1 1 192923945 intron variant A/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs10930502
rs10930502
2 2 172025679 intron variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs10968577
rs10968577
3 9 28415514 intron variant C/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs10999439
rs10999439
1 10 70626984 regulatory region variant T/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs11205303
rs11205303
9 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11209948
rs11209948
2 1.000 0.040 1 72346221 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11223600
rs11223600
1 11 133848987 upstream gene variant C/T snv 6.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs11515071
rs11515071
1 9 15855547 intron variant C/T snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11666808
rs11666808
3 1.000 0.040 19 18272696 intron variant T/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs11712037
rs11712037
1 3 12303231 intron variant C/G snv 9.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs11866219
rs11866219
2 16 69515846 regulatory region variant A/C snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs12140153
rs12140153
5 1 62114219 missense variant G/A;T snv 4.0E-06; 5.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12253527
rs12253527
1 10 21530895 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs13130484
rs13130484
7 1.000 0.080 4 45173674 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13163173
rs13163173
1 5 88647802 intron variant C/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs13410783
rs13410783
1 2 36562023 intron variant A/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs141793746
rs141793746
DYM
1 18 49311208 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs142101835
rs142101835
1 2 226795925 synonymous variant A/G snv 2.5E-03 2.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs1421085
rs1421085
FTO
28 0.752 0.280 16 53767042 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019