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: 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: rs10999439
rs10999439
1 10 70626984 regulatory region variant T/C snv 0.20 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: rs11712037
rs11712037
1 3 12303231 intron variant C/G snv 9.2E-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: 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: rs142550007
rs142550007
1 6 40300197 intergenic variant G/A snv 9.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs1464419
rs1464419
1 3 153973471 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs1538482
rs1538482
1 20 49088959 intron variant T/C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs159962
rs159962
1 1 8430923 intron variant C/T snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1928496
rs1928496
1 13 30438767 intergenic variant C/T snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs2080090
rs2080090
1 17 67832255 intron variant T/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs2192527
rs2192527
1 4 18328201 intergenic variant A/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs2411453
rs2411453
1 16 28620700 intron variant T/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2523625
rs2523625
1 6 31347871 intron variant A/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs2644109
rs2644109
1 1 201828407 intron variant C/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2820444
rs2820444
1 1 219568478 intergenic variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2820468
rs2820468
1 1 219500363 intergenic variant A/G snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs28399271
rs28399271
1 15 67417673 intron variant G/A snv 0.23 0.700 1.000 1 2019 2019