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rs119462980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119462980(G;T)
Make rs119462980(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position126424726
GeneKIRREL3
is asnp
is mentioned by
dbSNPrs119462980
ebirs119462980
HLIrs119462980
Exacrs119462980
Varsomers119462980
Maprs119462980
PheGenIrs119462980
hapmaprs119462980
1000 genomesrs119462980
hgdprs119462980
ensemblrs119462980
gopubmedrs119462980
geneviewrs119462980
scholarrs119462980
googlers119462980
pharmgkbrs119462980
gwascentralrs119462980
openSNPrs119462980
23andMers119462980
23andMe allrs119462980
SNP Nexus

SNPshotrs119462980
SNPdbers119462980
MSV3drs119462980
GWAS Ctlgrs119462980
Max Magnitude0
OMIM607761
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119462980(A,T;A,T)
Alt rs119462980(A,T;A,T)
Reference rs119462980(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIRREL3
CLNDBN Mental retardation, autosomal dominant 4
Reversed 1
HGVS NC_000011.9:g.126294621C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003022.3,