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rs587777411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777411(C;G)
Make rs587777411(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position105160144
GeneKIAA1033
is asnp
is mentioned by
dbSNPrs587777411
ebirs587777411
HLIrs587777411
Exacrs587777411
Varsomers587777411
Maprs587777411
PheGenIrs587777411
hapmaprs587777411
1000 genomesrs587777411
hgdprs587777411
ensemblrs587777411
gopubmedrs587777411
geneviewrs587777411
scholarrs587777411
googlers587777411
pharmgkbrs587777411
gwascentralrs587777411
openSNPrs587777411
23andMers587777411
23andMe allrs587777411
SNP Nexus

SNPshotrs587777411
SNPdbers587777411
MSV3drs587777411
GWAS Ctlgrs587777411
Max Magnitude0
ClinVar
Risk rs587777411(G;G)
Alt rs587777411(G;G)
Reference rs587777411(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KIAA1033
CLNDBN Mental retardation, autosomal recessive 43
Reversed 0
HGVS NC_000012.11:g.105553922C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000119809.2,