Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs1114167290
MYO5A
0.882 0.080 15 52340235 missense variant G/C snv 5
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs869025221
RARB
0.925 0.080 3 25593603 missense variant G/C snv 5
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
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
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4
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
rs1057519279
KMT2B
1.000 19 35720980 stop gained C/T snv 3
rs1057519281
KMT2B
1.000 19 35721775 stop gained C/T snv 3
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv 3
rs786205675
HPCA
1.000 0.080 1 32889123 missense variant C/A snv 3
rs786205861
GCDH
1.000 0.120 19 12896913 missense variant C/T snv 3
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv 2
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 2
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs80358233
TOR1A
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 2
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1