Variant: 21-33032096-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33032096-C-T p.Ala5Val missense+splice_region SOD1 18 9220 0.0019522776 4610 0 3.5929E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region SOD1 ENST00000389995 c.14C>T p.Ala5Val NA
missense SOD1 ENST00000270142 c.14C>T p.Ala5Val probably
missense SOD1 ENST00000389995 c.14C>T p.Ala5Val benign
splice_region SOD1 ENST00000389995 c.14C>T p.Ala5Val NA
non_coding_transcript_exon SOD1 ENST00000470944 n.75C>T NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.91C>T NA NA
upstream_gene AP000253.1 ENST00000449339 n.-283G>A NA NA
upstream_gene SNORA81 ENST00000458922 n.-4523C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.5929E-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 46 0.5869565 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 44 0.52272725 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 34 0.5588235 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 31 0.5483871 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 39 0.51282054 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 57 0.33333334 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 7 0.5714286 96 PASS
Yes M amyotrophic lateral sclerosis Hispanic HET 69 0.5362319 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 35 0.37142858 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 9 0.33333334 60 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 17 0.5294118 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 29 0.5862069 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 0.53125 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 55 0.47272727 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 37 0.45945945 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 67 0.3432836 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 49 0.4489796 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 20 0.4 99 PASS