Disease: Hypoxic-Ischemic Encephalopathy
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs9653711
LOC107985505 ; OLIG2
0.851 0.120 21 33029641 intron variant G/A;C snv 4
rs6517137
LOC107985505 ; OLIG2
0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 3
rs1005573
OLIG2
0.925 0.080 21 33026408 5 prime UTR variant C/T snv 0.73 2
rs1217401
AP4B1 ; AP4B1-AS1
0.925 0.080 1 113896329 missense variant A/G snv 0.30 0.42 2
rs6517135
OLIG2
0.925 0.080 21 33025263 intron variant T/C snv 0.33 2