Variant: 21-33039612-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039612-G-A p.Gly94Asp missense SOD1 1 9320 1.0729614E-4 4660 0 1.19292E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.281G>A p.Gly94Asp probably
missense SOD1 ENST00000389995 c.224G>A p.Gly75Asp probably
downstream_gene SCAF4 ENST00000286835 c.*4100C>T NA NA
downstream_gene SCAF4 ENST00000399804 c.*4100C>T NA NA
downstream_gene SCAF4 ENST00000434667 c.*4100C>T NA NA
downstream_gene SNORA81 ENST00000458922 n.*2817G>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1209G>A NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.544G>A NA NA
upstream_gene AP000254.8 ENST00000609934 n.-52C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 1.19292E-5 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 98 0.40816328 99 PASS