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rs121909543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909543(C;T)
Make rs121909543(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position20693971
GeneANG, RNASE4
is asnp
is mentioned by
dbSNPrs121909543
dbSNP (classic)rs121909543
ClinGenrs121909543
ebirs121909543
HLIrs121909543
Exacrs121909543
Gnomadrs121909543
Varsomers121909543
LitVarrs121909543
Maprs121909543
PheGenIrs121909543
Biobankrs121909543
1000 genomesrs121909543
hgdprs121909543
ensemblrs121909543
geneviewrs121909543
scholarrs121909543
googlers121909543
pharmgkbrs121909543
gwascentralrs121909543
openSNPrs121909543
23andMers121909543
SNPshotrs121909543
SNPdbers121909543
MSV3drs121909543
GWAS Ctlgrs121909543
Max Magnitude0
OMIM105850
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909543(T;T)
Alt rs121909543(T;T)
Reference Rs121909543(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 9
Variation info
Gene ANG RNASE4
CLNDBN Amyotrophic lateral sclerosis type 9
Reversed 0
HGVS NC_000014.8:g.21162130C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019707.27,