rs781417096, RARS2

N. diseases: 9
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.
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Meibomian Cyst
CUI: C0007933
Disease: Meibomian Cyst
3 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Pontocerebellar Hypoplasia Type 6
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
13 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Progressive spasticity
CUI: C1859520
Disease: Progressive spasticity
5 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0