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rs121917865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917865(A;C)
Make rs121917865(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position49908636
GeneIL4I1, NUP62
is asnp
is mentioned by
dbSNPrs121917865
ebirs121917865
HLIrs121917865
Exacrs121917865
Varsomers121917865
Maprs121917865
PheGenIrs121917865
hapmaprs121917865
1000 genomesrs121917865
hgdprs121917865
ensemblrs121917865
gopubmedrs121917865
geneviewrs121917865
scholarrs121917865
googlers121917865
pharmgkbrs121917865
gwascentralrs121917865
openSNPrs121917865
23andMers121917865
23andMe allrs121917865
SNP Nexus

SNPshotrs121917865
SNPdbers121917865
MSV3drs121917865
GWAS Ctlgrs121917865
Merged fromRs121918553
Max Magnitude0
ClinVar
Risk rs121917865(C;C)
Alt rs121917865(C;C)
Reference rs121917865(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 RCV000005018.2,