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rs797045164

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045164(C;T)
Make rs797045164(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position240785063
GeneKIF1A
is asnp
is mentioned by
dbSNPrs797045164
ebirs797045164
HLIrs797045164
Exacrs797045164
Varsomers797045164
Maprs797045164
PheGenIrs797045164
hapmaprs797045164
1000 genomesrs797045164
hgdprs797045164
ensemblrs797045164
gopubmedrs797045164
geneviewrs797045164
scholarrs797045164
googlers797045164
pharmgkbrs797045164
gwascentralrs797045164
openSNPrs797045164
23andMers797045164
23andMe allrs797045164
SNP Nexus

SNPshotrs797045164
SNPdbers797045164
MSV3drs797045164
GWAS Ctlgrs797045164
Max Magnitude0
ClinVar
Risk rs797045164(T;T)
Alt rs797045164(T;T)
Reference rs797045164(C;C)
Significance Pathogenic
Disease Mental retardation PEHO syndrome
Variation info
Gene KIF1A
CLNDBN Mental retardation, autosomal dominant 9 PEHO syndrome
Reversed 1
HGVS NC_000002.11:g.241724480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000191020.2, RCV000207243.1,