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rs672601364

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601364(G;T)
Make rs672601364(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240786513
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601364
ebirs672601364
HLIrs672601364
Exacrs672601364
Varsomers672601364
Maprs672601364
PheGenIrs672601364
hapmaprs672601364
1000 genomesrs672601364
hgdprs672601364
ensemblrs672601364
gopubmedrs672601364
geneviewrs672601364
scholarrs672601364
googlers672601364
pharmgkbrs672601364
gwascentralrs672601364
openSNPrs672601364
23andMers672601364
23andMe allrs672601364
SNP Nexus

SNPshotrs672601364
SNPdbers672601364
MSV3drs672601364
GWAS Ctlgrs672601364
Max Magnitude0
ClinVar
Risk rs672601364(T;T)
Alt rs672601364(T;T)
Reference rs672601364(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9
Reversed 1
HGVS NC_000002.11:g.241725930C>A
CLNSRC
CLNACC RCV000149476.1,