DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs1261007995
rs1261007995
1.000 0.080 X 31507391 synonymous variant T/C snv 5.5E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1391274976
rs1391274976
1.000 0.080 X 31774029 synonymous variant T/C snv 9.7E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016