DARS1, aspartyl-tRNA synthetase 1, 1615

N. diseases: 40; N. variants: 19
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs369152939
rs369152939 		1.000 2 135920591 missense variant G/A;C snv
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 1.000 1 2013 2013
dbSNP: rs370064817
rs370064817 		1.000 2 135916233 missense variant C/A;G;T snv 3.2E-05
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 1.000 1 2013 2013
dbSNP: rs886037635
rs886037635 		1.000 2 135922829 missense variant T/G snv 7.0E-06
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 1.000 1 2013 2013
dbSNP: rs147077598
rs147077598 		1.000 2 135907342 missense variant G/A;C snv 4.4E-05
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 0
dbSNP: rs587776984
rs587776984 		1.000 2 135907363 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 0
dbSNP: rs587776985
rs587776985 		1.000 2 135911174 missense variant C/A;T snv 2.4E-05
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.800 0
dbSNP: rs148806569
rs148806569 		1.000 2 135911162 missense variant G/A snv 1.6E-04 5.7E-04
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.700 1.000 1 2013 2013
dbSNP: rs377510027
rs377510027 		0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.700 0
dbSNP: rs527236040
rs527236040 		1.000 2 135920573 missense variant T/A snv 2.4E-05 7.0E-06
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.700 0
dbSNP: rs967111310
rs967111310 		1.000 2 135907341 missense variant C/T snv
CUI: C3809008
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 		0.700 0