Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1567053134
CYP11A1
0.925 0.040 15 74345160 frameshift variant AG/- del 8
rs1049305
AQP1
0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 4
rs778022582
KLHL40
0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 4
rs3742030
TRPV4
0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 4
rs3741559
AQP2 ; LOC101927318
1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 3
rs151264360
TYMS ; ENOSF1
0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins 3
rs467323
AQP2 ; LOC101927318
12 49955982 3 prime UTR variant C/G;T snv 2
rs775067652
CA12
15 63345543 missense variant G/T snv 4.0E-06 2
rs761389904
NDUFAF5
20 13816520 missense variant T/G snv 5.6E-05 2.1E-05 1