rs755221106, CACNA1G

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.
SPINOCEREBELLAR ATAXIA 42
CUI: C4225205
Disease: SPINOCEREBELLAR ATAXIA 42
2 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.830 1.000 5 2015 2020
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
CUI: C4748120
Disease: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
3 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019