Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs672601362(C;T)
Make rs672601362(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240789246
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601362
dbSNP (classic)rs672601362
ClinGenrs672601362
ebirs672601362
HLIrs672601362
Exacrs672601362
Gnomadrs672601362
Varsomers672601362
LitVarrs672601362
Maprs672601362
PheGenIrs672601362
Biobankrs672601362
1000 genomesrs672601362
hgdprs672601362
ensemblrs672601362
geneviewrs672601362
scholarrs672601362
googlers672601362
pharmgkbrs672601362
gwascentralrs672601362
openSNPrs672601362
23andMers672601362
SNPshotrs672601362
SNPdbers672601362
MSV3drs672601362
GWAS Ctlgrs672601362
Max Magnitude0
ClinVar
Risk rs672601362(T;T)
Alt rs672601362(T;T)
Reference Rs672601362(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9
Reversed 1
HGVS NC_000002.11:g.241728663G>A
CLNSRC
CLNACC RCV000149474.1,