Variant: 21-33032141-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33032141-A-G p.Asn20Ser missense SOD1 1 9192 1.0879025E-4 4596 0 5.04032E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.59A>G p.Asn20Ser benign
intron SOD1 ENST00000389995 c.15+44A>G NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.120A>G NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.136A>G NA NA
upstream_gene AP000253.1 ENST00000449339 n.-328T>C NA NA
upstream_gene SNORA81 ENST00000458922 n.-4478A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
8.34223E-5 NA 8.39107E-5 3.1904E-5 5.04032E-4 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 29 0.44827586 99 PASS