Variant: 21-33040893-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33040893-C-T c.*2C>T 3_prime_UTR SOD1 8 9122 8.770007E-4 4561 0 0.00257929


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
3_prime_UTR SOD1 ENST00000270142 c.*2C>T NA NA
3_prime_UTR SOD1 ENST00000389995 c.*2C>T NA NA
downstream_gene SCAF4 ENST00000286835 c.*2819G>A NA NA
downstream_gene SCAF4 ENST00000399804 c.*2819G>A NA NA
downstream_gene SCAF4 ENST00000434667 c.*2819G>A NA NA
downstream_gene SNORA81 ENST00000458922 n.*4098C>T NA NA
downstream_gene SOD1 ENST00000476106 n.*1239C>T NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1395C>T NA NA
upstream_gene AP000254.8 ENST00000609934 n.-1333G>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
6.60327E-4 NA 6.32836E-4 0.00257929 NA 6.25E-4 NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis African HET 49 0.4489796 99 LIKELY
Yes M amyotrophic lateral sclerosis African HET 41 0.5121951 99 PASS
Yes M amyotrophic lateral sclerosis African HET 66 0.54545456 99 PASS
Yes F amyotrophic lateral sclerosis African HET 95 0.4526316 99 PASS
Yes F amyotrophic lateral sclerosis African HET 27 0.4814815 99 PASS
Yes F amyotrophic lateral sclerosis African HET 35 0.45714286 99 PASS
Yes M amyotrophic lateral sclerosis African HET 76 0.5 99 PASS
Yes M amyotrophic lateral sclerosis African HET 78 0.53846157 99 PASS