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rs121912448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912448(G;T)
Make rs121912448(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659789
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912448
ebirs121912448
HLIrs121912448
Exacrs121912448
Varsomers121912448
Maprs121912448
PheGenIrs121912448
hapmaprs121912448
1000 genomesrs121912448
hgdprs121912448
ensemblrs121912448
gopubmedrs121912448
geneviewrs121912448
scholarrs121912448
googlers121912448
pharmgkbrs121912448
gwascentralrs121912448
openSNPrs121912448
23andMers121912448
23andMe allrs121912448
SNP Nexus

SNPshotrs121912448
SNPdbers121912448
MSV3drs121912448
GWAS Ctlgrs121912448
Max Magnitude0
OMIM147450
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121912448(T;T)
Alt rs121912448(T;T)
Reference rs121912448(G;G)
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.33032102G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015894.21,