Variant: 21-33036178-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33036178-G-A p.Glu50Lys missense SOD1 2 9332 2.1431633E-4 4666 0 3.97624E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.148G>A p.Glu50Lys benign
missense SOD1 ENST00000389995 c.91G>A p.Glu31Lys possibly
downstream_gene AP000254.8 ENST00000609934 n.*2863C>T NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1076G>A NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.411G>A NA NA
upstream_gene AP000253.1 ENST00000449339 n.-4365C>T NA NA
upstream_gene SNORA81 ENST00000458922 n.-441G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97624E-6 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 65 0.5538462 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 95 0.51578945 99 PASS