rs767350733, ALS2

N. diseases: 7
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017
Abnormality of the ankles
CUI: C4025660
Disease: Abnormality of the ankles
1 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
10 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
Toe-walking gait
CUI: C0427144
Disease: Toe-walking gait
4 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0