Variant: 21-33032131-G-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33032131-G-A p.Gly17Ser missense SOD1 1 9202 1.0867203E-4 4601 0 NA


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.49G>A p.Gly17Ser probably
intron SOD1 ENST00000389995 c.15+34G>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.110G>A NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.126G>A NA NA
upstream_gene AP000253.1 ENST00000449339 n.-318C>T NA NA
upstream_gene SNORA81 ENST00000458922 n.-4488G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA NA 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 31 0.3548387 99 PASS