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rs387906970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906970(C;T)
Make rs387906970(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position31066320
GeneAP4S1
is asnp
is mentioned by
dbSNPrs387906970
ebirs387906970
HLIrs387906970
Exacrs387906970
Varsomers387906970
Maprs387906970
PheGenIrs387906970
hapmaprs387906970
1000 genomesrs387906970
hgdprs387906970
ensemblrs387906970
gopubmedrs387906970
geneviewrs387906970
scholarrs387906970
googlers387906970
pharmgkbrs387906970
gwascentralrs387906970
openSNPrs387906970
23andMers387906970
23andMe allrs387906970
SNP Nexus

SNPshotrs387906970
SNPdbers387906970
MSV3drs387906970
GWAS Ctlgrs387906970
Max Magnitude0
ClinVar
Risk rs387906970(A,G,T;A,G,T)
Alt rs387906970(A,G,T;A,G,T)
Reference rs387906970(C;C)
Significance Pathogenic
Disease not provided Spastic paraplegia 52
Variation info
Gene AP4S1
CLNDBN not provided Spastic paraplegia 52, autosomal recessive
Reversed 0
HGVS NC_000014.8:g.31535526C>A; NC_000014.8:g.31535526C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000116370.1, RCV000023635.3,