rs1114167290, MYO5A

N. diseases: 5
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.
Cerebellar cortical atrophy
CUI: C4024710
Disease: Cerebellar cortical atrophy
7 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0