Variant: 21-33032109-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33032109-G-A p.Leu9Leu synonymous SOD1 1 9236 1.0827198E-4 4618 0 1.99599E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous SOD1 ENST00000270142 c.27G>A p.Leu9Leu NA
intron SOD1 ENST00000389995 c.15+12G>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.88G>A NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.104G>A NA NA
upstream_gene AP000253.1 ENST00000449339 n.-296C>T NA NA
upstream_gene SNORA81 ENST00000458922 n.-4510G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.3357E-6 NA 1.99599E-5 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 Caucasian HET 76 0.55263156 99 PASS