rs770703007, MAPK8IP3

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
EEG with parietal focal spikes
CUI: C4023074
Disease: EEG with parietal focal spikes
1 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
EEG with temporal focal spikes
CUI: C4023073
Disease: EEG with temporal focal spikes
1 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
Hypometric saccades
CUI: C0423082
Disease: Hypometric saccades
4 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0