Variant: 21-33039603-A-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039603-A-C p.Asp91Ala missense SOD1 14 9322 0.0015018237 4661 1 0.0020698


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.272A>C p.Asp91Ala benign
missense SOD1 ENST00000389995 c.215A>C p.Asp72Ala benign
downstream_gene SCAF4 ENST00000286835 c.*4109T>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*4109T>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*4109T>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*2808A>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1200A>C NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.535A>C NA NA
upstream_gene AP000254.8 ENST00000609934 n.-43T>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.00112161 NA 0.00143157 0.0020698 0.00100806 6.25E-4 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 90 0.5555556 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 28 0.4642857 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 184 0.47826087 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 39 0.61538464 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HOM 55 1.0 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 101 0.44554454 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 40 0.55 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 83 0.60240966 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 52 0.53846157 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 38 0.47368422 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 127 0.43307087 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 47 0.4680851 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 125 0.504 99 PASS