Variant: 21-33039573-A-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039573-A-G p.His81Arg missense+splice_region SOD1 1 9316 1.0734221E-4 4658 0 3.97848E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region SOD1 ENST00000270142 c.242A>G p.His81Arg probably
missense+splice_region SOD1 ENST00000389995 c.185A>G p.His62Arg probably
missense SOD1 ENST00000270142 c.242A>G p.His81Arg probably
missense SOD1 ENST00000389995 c.185A>G p.His62Arg probably
splice_region SOD1 ENST00000270142 c.242A>G p.His81Arg NA
splice_region SOD1 ENST00000389995 c.185A>G p.His62Arg NA
splice_region SOD1 ENST00000470944 n.1170A>G NA NA
splice_region SOD1 ENST00000476106 n.505A>G NA NA
downstream_gene SCAF4 ENST00000286835 c.*4139T>C NA NA
downstream_gene SCAF4 ENST00000399804 c.*4139T>C NA NA
downstream_gene SCAF4 ENST00000434667 c.*4139T>C NA NA
downstream_gene SNORA81 ENST00000458922 n.*2778A>G NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1170A>G NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.505A>G NA NA
upstream_gene AP000254.8 ENST00000609934 n.-13T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97848E-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 Caucasian HET 70 0.4 99 PASS