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rs74315452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315452(C;C)
Make rs74315452(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667356
GeneSOD1
is asnp
is mentioned by
dbSNPrs74315452
dbSNP (classic)rs74315452
ClinGenrs74315452
ebirs74315452
HLIrs74315452
Exacrs74315452
Gnomadrs74315452
Varsomers74315452
LitVarrs74315452
Maprs74315452
PheGenIrs74315452
Biobankrs74315452
1000 genomesrs74315452
hgdprs74315452
ensemblrs74315452
geneviewrs74315452
scholarrs74315452
googlers74315452
pharmgkbrs74315452
gwascentralrs74315452
openSNPrs74315452
23andMers74315452
SNPshotrs74315452
SNPdbers74315452
MSV3drs74315452
GWAS Ctlgrs74315452
Max Magnitude0
OMIM147450
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315452(C;C)
Alt rs74315452(C;C)
Reference Rs74315452(T;T)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1
Reversed 0
HGVS NC_000021.8:g.33039669T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015884.26,