rs1057518963, OPHN1

N. diseases: 6
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 Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0