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rs869312711

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312711(G;G)
Make rs869312711(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position240788149
GeneKIF1A
is asnp
is mentioned by
dbSNPrs869312711
ebirs869312711
HLIrs869312711
Exacrs869312711
Varsomers869312711
Maprs869312711
PheGenIrs869312711
hapmaprs869312711
1000 genomesrs869312711
hgdprs869312711
ensemblrs869312711
gopubmedrs869312711
geneviewrs869312711
scholarrs869312711
googlers869312711
pharmgkbrs869312711
gwascentralrs869312711
openSNPrs869312711
23andMers869312711
23andMe allrs869312711
SNP Nexus

SNPshotrs869312711
SNPdbers869312711
MSV3drs869312711
GWAS Ctlgrs869312711
Max Magnitude0
ClinVar
Risk rs869312711(G;G)
Alt rs869312711(G;G)
Reference rs869312711(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9
Reversed 1
HGVS NC_000002.11:g.241727566A>C
CLNSRC
CLNACC RCV000209842.1,