rs137852695, PPT1

N. diseases: 4
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.
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.800 1.000 9 1995 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0