Variant: 21-33039672-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
21-33039672-T-C p.Ile114Thr missense SOD1 22 9314 0.0023620357 4657 0 4.77179E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense SOD1 ENST00000270142 c.341T>C p.Ile114Thr possibly
missense SOD1 ENST00000389995 c.284T>C p.Ile95Thr benign
downstream_gene SCAF4 ENST00000286835 c.*4040A>G NA NA
downstream_gene SCAF4 ENST00000399804 c.*4040A>G NA NA
downstream_gene SCAF4 ENST00000434667 c.*4040A>G NA NA
downstream_gene SNORA81 ENST00000458922 n.*2877T>C NA NA
downstream_gene SOD1 ENST00000476106 n.*18T>C NA NA
non_coding_transcript_exon SOD1 ENST00000470944 n.1269T>C NA NA
upstream_gene AP000254.8 ENST00000609934 n.-112A>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.77179E-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 35 0.34285715 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 99 0.47474748 99 PASS
Yes F amyotrophic lateral sclerosis Hispanic HET 102 0.37254903 99 LIKELY
Yes M amyotrophic lateral sclerosis Caucasian HET 25 0.48 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 48 0.5833333 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 209 0.4258373 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 53 0.4528302 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 42 0.47619048 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 36 0.6388889 99 PASS
Yes F amyotrophic lateral sclerosis Hispanic HET 49 0.53061223 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 86 0.45348838 99 PASS
Yes F amyotrophic lateral sclerosis African HET 38 0.5263158 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 58 0.4827586 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 41 0.6585366 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 71 0.53521127 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 45 0.46666667 99 PASS
Yes F amyotrophic lateral sclerosis Hispanic HET 64 0.484375 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 45 0.51111114 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 47 0.5744681 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 57 0.5263158 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 108 0.5092593 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 81 0.5185185 99 PASS