Disease: Glycogen storage disease type II
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10411506
C3
0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14 2
rs1047286
C3
0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 2
rs10490923
ARMS2 ; LOC105378525
0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02 2
rs112000638 0.925 0.160 11 131359434 intergenic variant T/C snv 8.7E-03 2
rs13119914 0.925 0.160 4 177053703 intron variant G/A;C snv 2
rs1345823874
RPE
0.882 0.160 2 210018157 frameshift variant ATCATTAAGTTTCACGGCCTTGGAAG/- delins 7.4E-06 3
rs163913
C3
0.925 0.160 19 6722624 intron variant C/G;T snv 2
rs1878326
MFGE8
0.925 0.160 15 88907356 missense variant G/T snv 0.62 0.67 2
rs2014307
LOC105378525
0.925 0.160 10 122458116 intron variant T/G snv 0.63 2
rs2250656
C3
0.882 0.160 19 6718523 intron variant T/C snv 0.25 4
rs2293870
LOC105378525 ; HTRA1
0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 4
rs2301995
ELN
0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 3
rs2511989
SERPING1
0.882 0.160 11 57610852 intron variant C/T snv 0.39 3
rs2672598
HTRA1 ; LOC105378525
0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49 4
rs339392
C3
0.925 0.160 19 6722011 intron variant G/T snv 0.79 2
rs380390
CFH
0.925 0.160 1 196731921 intron variant G/A;C;T snv 2
rs429608
CYP21A2 ; SKIV2L
0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 4
rs453821
SKIV2L ; CYP21A2
0.925 0.160 6 31967534 intron variant C/T snv 0.19 2
rs547154
CYP21A2 ; C2 ; C2-AS1
0.882 0.160 6 31943161 intron variant G/T snv 0.12 3
rs572515
CFH
0.925 0.160 1 196677131 non coding transcript exon variant A/G;T snv 2
rs61941274
ACAD10
0.827 0.160 12 111694806 intron variant G/A;T snv 5
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 7
rs6733379
LINC01317
0.925 0.160 2 34255008 intron variant G/T snv 0.72 2
rs6828477
KDR
0.925 0.160 4 55100634 intron variant C/T snv 0.59 2
rs699946 0.925 0.160 6 43764932 regulatory region variant A/G snv 0.20 2