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rs397514514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514514(A;G)
Make rs397514514(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position107947388
GeneCYP2U1
is asnp
is mentioned by
dbSNPrs397514514
ebirs397514514
HLIrs397514514
Exacrs397514514
Varsomers397514514
Maprs397514514
PheGenIrs397514514
hapmaprs397514514
1000 genomesrs397514514
hgdprs397514514
ensemblrs397514514
gopubmedrs397514514
geneviewrs397514514
scholarrs397514514
googlers397514514
pharmgkbrs397514514
gwascentralrs397514514
openSNPrs397514514
23andMers397514514
23andMe allrs397514514
SNP Nexus

SNPshotrs397514514
SNPdbers397514514
MSV3drs397514514
GWAS Ctlgrs397514514
Max Magnitude0
ClinVar
Risk rs397514514(G;G)
Alt rs397514514(G;G)
Reference rs397514514(A;A)
Significance Pathogenic
Disease Spastic paraplegia 56
Variation info
Gene CYP2U1
CLNDBN Spastic paraplegia 56, autosomal recessive
Reversed 0
HGVS NC_000004.11:g.108868544A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032697.3,