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rs114378922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114378922(C;T)
Make rs114378922(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position126446877
GeneKIRREL3
is asnp
is mentioned by
dbSNPrs114378922
ebirs114378922
HLIrs114378922
Exacrs114378922
Varsomers114378922
Maprs114378922
PheGenIrs114378922
hapmaprs114378922
1000 genomesrs114378922
hgdprs114378922
ensemblrs114378922
gopubmedrs114378922
geneviewrs114378922
scholarrs114378922
googlers114378922
pharmgkbrs114378922
gwascentralrs114378922
openSNPrs114378922
23andMers114378922
23andMe allrs114378922
SNP Nexus

SNPshotrs114378922
SNPdbers114378922
MSV3drs114378922
GWAS Ctlgrs114378922
GMAF0.0009183
Max Magnitude0
OMIM607761
Desc
Variant0002
Relatedalso
ClinVar
Risk rs114378922(T;T)
Alt rs114378922(T;T)
Reference rs114378922(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIRREL3
CLNDBN Mental retardation, autosomal dominant 4
Reversed 0
HGVS NC_000011.9:g.126316772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003021.3,