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rs121918553

From SNPedia

Merged intors121917865
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918553(A;C)
Make rs121918553(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position49908636
GeneIL4I1, NUP62
is asnp
is mentioned by
dbSNPrs121918553
ebirs121918553
HLIrs121918553
Exacrs121918553
Varsomers121918553
Maprs121918553
PheGenIrs121918553
hapmaprs121918553
1000 genomesrs121918553
hgdprs121918553
ensemblrs121918553
gopubmedrs121918553
geneviewrs121918553
scholarrs121918553
googlers121918553
pharmgkbrs121918553
gwascentralrs121918553
openSNPrs121918553
23andMers121918553
23andMe allrs121918553
SNP Nexus

SNPshotrs121918553
SNPdbers121918553
MSV3drs121918553
GWAS Ctlgrs121918553
StatusMerged into rs121917865
Max Magnitude0
OMIM605815
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918553(C;C)
Alt rs121918553(C;C)
Reference rs121918553(A;A)
Significance Pathogenic
Disease Striatonigral degeneration infantile
Variation info
Gene NUP62 IL4I1
CLNDBN Striatonigral degeneration infantile
Reversed 1
HGVS NC_000019.9:g.50411893T>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000025194.1, SCV000025194.1,