Variant: 21-33036169-C-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33036169-C-G p.His47Asp missense SOD1 1 9334 1.071352E-4 4667 0 3.97621E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.139C>G p.His47Asp probably
missense SOD1 ENST00000389995 c.82C>G p.His28Asp probably
downstream_gene AP000254.8 ENST00000609934 n.*2872G>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1067C>G NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.402C>G NA NA
upstream_gene AP000253.1 ENST00000449339 n.-4356G>C NA NA
upstream_gene SNORA81 ENST00000458922 n.-450C>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.97621E-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 118 0.47457626 99 LIKELY