Variant: 21-33040803-A-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33040803-A-C p.Asp126Ala missense SOD1 1 9236 1.0827198E-4 4618 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.377A>C p.Asp126Ala probably
missense SOD1 ENST00000389995 c.320A>C p.Asp107Ala probably
downstream_gene SCAF4 ENST00000286835 c.*2909T>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*2909T>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*2909T>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*4008A>C NA NA
downstream_gene SOD1 ENST00000476106 n.*1149A>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1305A>C NA NA
upstream_gene AP000254.8 ENST00000609934 n.-1243T>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 32 0.34375 99 PASS