rs377510027, DARS1

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.
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
10 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
Inversion of nipple (disorder)
CUI: C0269269
Disease: Inversion of nipple (disorder)
7 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0