Variant: 21-33040849-T-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33040849-T-A p.Ala141Ala synonymous SOD1 5 9138 5.471657E-4 4569 0 0.00302115


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous SOD1 ENST00000270142 c.423T>A p.Ala141Ala NA
synonymous SOD1 ENST00000389995 c.366T>A p.Ala122Ala NA
downstream_gene SCAF4 ENST00000286835 c.*2863A>T NA NA
downstream_gene SCAF4 ENST00000399804 c.*2863A>T NA NA
downstream_gene SCAF4 ENST00000434667 c.*2863A>T NA NA
downstream_gene SNORA81 ENST00000458922 n.*4054T>A NA NA
downstream_gene SOD1 ENST00000476106 n.*1195T>A NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1351T>A NA NA
upstream_gene AP000254.8 ENST00000609934 n.-1289A>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
4.6146E-4 NA 4.29772E-4 2.22958E-4 0.00302115 0.00125 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 33 0.6363636 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 51 0.43137255 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 26 0.5 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 15 0.53333336 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 0.5 99 PASS