Disease: Amino acids measurement
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs560887
SPC25 ; G6PC2
0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 18
rs2657879
GLS2 ; SPRYD4
1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 9
rs2731672
GRK6
5 177415473 intron variant T/C snv 0.66 6
rs3733402
KLKB1
1.000 0.040 4 186236880 missense variant G/A;C snv 0.54 5
rs10211524
LOC107984063 ; LINC02245
2 64980940 intron variant G/A snv 0.51 4
rs1440581
PPM1K-DT
1.000 0.080 4 88305270 intron variant T/A;C snv 4
rs774211
RBMS2
12 56527155 intron variant T/C snv 0.12 4
rs10466351 11 92964815 upstream gene variant C/T snv 0.48 3
rs14399
SLC16A10
6 111222741 3 prime UTR variant C/A snv 0.32 3
rs2040771 22 19174422 downstream gene variant C/A;T snv 3
rs7078003
HOGA1
10 97599655 non coding transcript exon variant C/T snv 0.14 0.14 3
rs7302925
SPRYD4 ; MIP
12 56467674 intron variant A/G snv 0.69 3
rs9637599
PPM1K ; PPM1K-DT
4 88285078 intron variant A/C snv 0.56 3
rs7678928
PPM1K-DT
4 88301675 intron variant C/T snv 0.43 2
rs9400467
SLC16A10
6 111102812 intron variant C/T snv 0.69 2