Variant: 21-33036161-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33036161-A-G p.His44Arg missense SOD1 1 9332 1.07158165E-4 4666 0 3.97621E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.131A>G p.His44Arg probably
missense SOD1 ENST00000389995 c.74A>G p.His25Arg probably
downstream_gene AP000254.8 ENST00000609934 n.*2880T>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1059A>G NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.394A>G NA NA
upstream_gene AP000253.1 ENST00000449339 n.-4348T>C NA NA
upstream_gene SNORA81 ENST00000458922 n.-458A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97621E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis MiddleEastern HET 149 0.4899329 99 PASS