Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs775863165
HPCA
1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 3
rs786205675
HPCA
1.000 0.080 1 32889123 missense variant C/A snv 3
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
rs869025222
RARB
0.827 0.240 3 25580574 missense variant T/C snv 9
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs796065306
ADCY5
1.000 0.080 3 123319754 missense variant C/T snv 4
rs864309484
ADCY5
1.000 0.080 3 123291354 missense variant A/T snv 4