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rs672601371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601371(A;A)
Make rs672601371(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240783791
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601371
dbSNP (classic)rs672601371
ClinGenrs672601371
ebirs672601371
HLIrs672601371
Exacrs672601371
Gnomadrs672601371
Varsomers672601371
LitVarrs672601371
Maprs672601371
PheGenIrs672601371
Biobankrs672601371
1000 genomesrs672601371
hgdprs672601371
ensemblrs672601371
geneviewrs672601371
scholarrs672601371
googlers672601371
pharmgkbrs672601371
gwascentralrs672601371
openSNPrs672601371
23andMers672601371
SNPshotrs672601371
SNPdbers672601371
MSV3drs672601371
GWAS Ctlgrs672601371
Max Magnitude0
ClinVar
Risk rs672601371(A;A)
Alt rs672601371(A;A)
Reference Rs672601371(T;T)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9
Reversed 1
HGVS NC_000002.11:g.241723208A>T
CLNSRC
CLNACC RCV000149483.1,