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rs672601363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601363(A;A)
Make rs672601363(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240788109
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601363
dbSNP (classic)rs672601363
ClinGenrs672601363
ebirs672601363
HLIrs672601363
Exacrs672601363
Gnomadrs672601363
Varsomers672601363
LitVarrs672601363
Maprs672601363
PheGenIrs672601363
Biobankrs672601363
1000 genomesrs672601363
hgdprs672601363
ensemblrs672601363
geneviewrs672601363
scholarrs672601363
googlers672601363
pharmgkbrs672601363
gwascentralrs672601363
openSNPrs672601363
23andMers672601363
SNPshotrs672601363
SNPdbers672601363
MSV3drs672601363
GWAS Ctlgrs672601363
Max Magnitude0
ClinVar
Risk rs672601363(A;A)
Alt rs672601363(A;A)
Reference Rs672601363(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.241727526C>T
CLNSRC
CLNACC RCV000149475.1,