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rs387907259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907259(C;G)
Make rs387907259(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240773246
GeneKIF1A
is asnp
is mentioned by
dbSNPrs387907259
ebirs387907259
HLIrs387907259
Exacrs387907259
Varsomers387907259
Maprs387907259
PheGenIrs387907259
hapmaprs387907259
1000 genomesrs387907259
hgdprs387907259
ensemblrs387907259
gopubmedrs387907259
geneviewrs387907259
scholarrs387907259
googlers387907259
pharmgkbrs387907259
gwascentralrs387907259
openSNPrs387907259
23andMers387907259
23andMe allrs387907259
SNP Nexus

SNPshotrs387907259
SNPdbers387907259
MSV3drs387907259
GWAS Ctlgrs387907259
Max Magnitude0
ClinVar
Risk rs387907259(G;G)
Alt rs387907259(G;G)
Reference rs387907259(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.241712663G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030681.4,