Variant: 21-33038772-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33038772-T-C p.Ser60Ser synonymous SOD1 2 9250 2.1621621E-4 4625 0 1.27604E-4


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous SOD1 ENST00000270142 c.180T>C p.Ser60Ser NA
synonymous SOD1 ENST00000389995 c.123T>C p.Ser41Ser NA
downstream_gene SCAF4 ENST00000286835 c.*4940A>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*4940A>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*4940A>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*1977T>C NA NA
downstream_gene AP000254.8 ENST00000609934 n.*269A>G NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1108T>C NA NA
non_coding_transcript_exon SOD1 ENST00000476106 n.443T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.25942E-4 NA 1.27604E-4 6.3678E-5 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 47 0.5106383 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 10 0.3 83 PASS