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rs397514515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514515(C;C)
Make rs397514515(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position107945263
GeneCYP2U1
is asnp
is mentioned by
dbSNPrs397514515
ebirs397514515
HLIrs397514515
Exacrs397514515
Varsomers397514515
Maprs397514515
PheGenIrs397514515
hapmaprs397514515
1000 genomesrs397514515
hgdprs397514515
ensemblrs397514515
gopubmedrs397514515
geneviewrs397514515
scholarrs397514515
googlers397514515
pharmgkbrs397514515
gwascentralrs397514515
openSNPrs397514515
23andMers397514515
23andMe allrs397514515
SNP Nexus

SNPshotrs397514515
SNPdbers397514515
MSV3drs397514515
GWAS Ctlgrs397514515
Max Magnitude0
ClinVar
Risk rs397514515(C;C)
Alt rs397514515(C;C)
Reference rs397514515(T;T)
Significance Pathogenic
Disease Spastic paraplegia 56
Variation info
Gene CYP2U1
CLNDBN Spastic paraplegia 56, autosomal recessive
Reversed 0
HGVS NC_000004.11:g.108866419T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032699.3,