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rs200440467

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200440467(C;T)
Make rs200440467(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position31072968
GeneAP4S1
is asnp
is mentioned by
dbSNPrs200440467
ebirs200440467
HLIrs200440467
Exacrs200440467
Varsomers200440467
Maprs200440467
PheGenIrs200440467
hapmaprs200440467
1000 genomesrs200440467
hgdprs200440467
ensemblrs200440467
gopubmedrs200440467
geneviewrs200440467
scholarrs200440467
googlers200440467
pharmgkbrs200440467
gwascentralrs200440467
openSNPrs200440467
23andMers200440467
23andMe allrs200440467
SNP Nexus

SNPshotrs200440467
SNPdbers200440467
MSV3drs200440467
GWAS Ctlgrs200440467
Max Magnitude0
ClinVar
Risk rs200440467(T;T)
Alt rs200440467(T;T)
Reference rs200440467(C;C)
Significance Pathogenic
Disease Spastic paraplegia 52
Variation info
Gene AP4S1
CLNDBN Spastic paraplegia 52, autosomal recessive
Reversed 0
HGVS NC_000014.8:g.31542174C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223666.1,