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

rs672601369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601369(A;A)
Make rs672601369(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240783780
GeneKIF1A
is asnp
is mentioned by
dbSNPrs672601369
dbSNP (classic)rs672601369
ClinGenrs672601369
ebirs672601369
HLIrs672601369
Exacrs672601369
Gnomadrs672601369
Varsomers672601369
LitVarrs672601369
Maprs672601369
PheGenIrs672601369
Biobankrs672601369
1000 genomesrs672601369
hgdprs672601369
ensemblrs672601369
geneviewrs672601369
scholarrs672601369
googlers672601369
pharmgkbrs672601369
gwascentralrs672601369
openSNPrs672601369
23andMers672601369
SNPshotrs672601369
SNPdbers672601369
MSV3drs672601369
GWAS Ctlgrs672601369
Max Magnitude0
ClinVar
Risk rs672601369(A;A)
Alt rs672601369(A;A)
Reference Rs672601369(G;G)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9 not provided
Reversed 1
HGVS NC_000002.11:g.241723197C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149481.3, RCV000488961.1,