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rs387906799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906799(C;T)
Make rs387906799(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position240788118
GeneKIF1A
is asnp
is mentioned by
dbSNPrs387906799
ebirs387906799
HLIrs387906799
Exacrs387906799
Varsomers387906799
Maprs387906799
PheGenIrs387906799
hapmaprs387906799
1000 genomesrs387906799
hgdprs387906799
ensemblrs387906799
gopubmedrs387906799
geneviewrs387906799
scholarrs387906799
googlers387906799
pharmgkbrs387906799
gwascentralrs387906799
openSNPrs387906799
23andMers387906799
23andMe allrs387906799
SNP Nexus

SNPshotrs387906799
SNPdbers387906799
MSV3drs387906799
GWAS Ctlgrs387906799
Max Magnitude0
ClinVar
Risk rs387906799(T;T)
Alt rs387906799(T;T)
Reference rs387906799(C;C)
Significance Pathogenic
Disease Mental retardation PEHO syndrome not provided
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9 PEHO syndrome not provided
Reversed 1
HGVS NC_000002.11:g.241727535G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023087.4, RCV000207102.1, RCV000235916.1,