Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 2
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs3087243 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 35
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 1
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32