Variant: 21-33039602-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039602-G-A p.Asp91Asn missense SOD1 1 9326 1.07227104E-4 4663 0 3.97659E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.271G>A p.Asp91Asn NA
missense SOD1 ENST00000389995 c.214G>A p.Asp72Asn NA
downstream_gene SCAF4 ENST00000286835 c.*4110C>T NA NA
downstream_gene SCAF4 ENST00000399804 c.*4110C>T NA NA
downstream_gene SCAF4 ENST00000434667 c.*4110C>T NA NA
downstream_gene SNORA81 ENST00000458922 n.*2807G>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1199G>A NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.534G>A NA NA
upstream_gene AP000254.8 ENST00000609934 n.-42C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97659E-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 116 0.36206895 99 PASS