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rs397514513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514513(A;T)
Make rs397514513(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position107945426
GeneCYP2U1
is asnp
is mentioned by
dbSNPrs397514513
ebirs397514513
HLIrs397514513
Exacrs397514513
Varsomers397514513
Maprs397514513
PheGenIrs397514513
hapmaprs397514513
1000 genomesrs397514513
hgdprs397514513
ensemblrs397514513
gopubmedrs397514513
geneviewrs397514513
scholarrs397514513
googlers397514513
pharmgkbrs397514513
gwascentralrs397514513
openSNPrs397514513
23andMers397514513
23andMe allrs397514513
SNP Nexus

SNPshotrs397514513
SNPdbers397514513
MSV3drs397514513
GWAS Ctlgrs397514513
Max Magnitude0
ClinVar
Risk rs397514513(T;T)
Alt rs397514513(T;T)
Reference rs397514513(A;A)
Significance Pathogenic
Disease Spastic paraplegia 56 Global developmental delay Neurodegenerative illness Spastic paraplegia
Variation info
Gene CYP2U1
CLNDBN Spastic paraplegia 56, autosomal recessive Global developmental delay Neurodegenerative illness Spastic paraplegia
Reversed 0
HGVS NC_000004.11:g.108866582A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032696.2, RCV000162142.1, RCV000162185.1,