UNC13A, unc-13 homolog A, 23025

N. diseases: 41; N. variants: 3
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: rs12608932
rs12608932
0.827 0.080 19 17641880 intron variant A/C snv 0.36
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.880 0.923 13 2009 2019
dbSNP: rs12973192
rs12973192
1.000 0.080 19 17642430 intron variant C/G snv 0.31
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4239633
rs4239633
0.851 0.240 19 17631660 intron variant C/T snv 0.32
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018