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rs587777480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777480(C;C)
Make rs587777480(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position5692899
GeneLINC01248, SOX11
is asnp
is mentioned by
dbSNPrs587777480
ebirs587777480
HLIrs587777480
Exacrs587777480
Varsomers587777480
Maprs587777480
PheGenIrs587777480
hapmaprs587777480
1000 genomesrs587777480
hgdprs587777480
ensemblrs587777480
gopubmedrs587777480
geneviewrs587777480
scholarrs587777480
googlers587777480
pharmgkbrs587777480
gwascentralrs587777480
openSNPrs587777480
23andMers587777480
23andMe allrs587777480
SNP Nexus

SNPshotrs587777480
SNPdbers587777480
MSV3drs587777480
GWAS Ctlgrs587777480
Max Magnitude0
ClinVar
Risk rs587777480(C;C)
Alt rs587777480(C;C)
Reference rs587777480(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene LINC01248 SOX11
CLNDBN Mental retardation, autosomal dominant 27
Reversed 0
HGVS NC_000002.11:g.5833031T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128429.3,