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rs387906798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906798(C;T)
Make rs387906798(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240783773
GeneKIF1A
is asnp
is mentioned by
dbSNPrs387906798
ebirs387906798
HLIrs387906798
Exacrs387906798
Varsomers387906798
Maprs387906798
PheGenIrs387906798
hapmaprs387906798
1000 genomesrs387906798
hgdprs387906798
ensemblrs387906798
gopubmedrs387906798
geneviewrs387906798
scholarrs387906798
googlers387906798
pharmgkbrs387906798
gwascentralrs387906798
openSNPrs387906798
23andMers387906798
23andMe allrs387906798
SNP Nexus

SNPshotrs387906798
SNPdbers387906798
MSV3drs387906798
GWAS Ctlgrs387906798
Max Magnitude0
ClinVar
Risk rs387906798(T;T)
Alt rs387906798(T;T)
Reference rs387906798(C;C)
Significance Pathogenic
Disease Spastic paraplegia 30
Variation info
Gene KIF1A
CLNDBN Spastic paraplegia 30, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.241723190G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023084.4,