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rs119462978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119462978(C;T)
Make rs119462978(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position126562850
GeneKIRREL3
is asnp
is mentioned by
dbSNPrs119462978
ebirs119462978
HLIrs119462978
Exacrs119462978
Varsomers119462978
Maprs119462978
PheGenIrs119462978
hapmaprs119462978
1000 genomesrs119462978
hgdprs119462978
ensemblrs119462978
gopubmedrs119462978
geneviewrs119462978
scholarrs119462978
googlers119462978
pharmgkbrs119462978
gwascentralrs119462978
openSNPrs119462978
23andMers119462978
23andMe allrs119462978
SNP Nexus

SNPshotrs119462978
SNPdbers119462978
MSV3drs119462978
GWAS Ctlgrs119462978
Max Magnitude0
OMIM607761
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119462978(T;T)
Alt rs119462978(T;T)
Reference rs119462978(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIRREL3
CLNDBN Mental retardation, autosomal dominant 4
Reversed 1
HGVS NC_000011.9:g.126432745G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003020.3,