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rs587777646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777646(C;T)
Make rs587777646(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position76733367
GeneMETTL23
is asnp
is mentioned by
dbSNPrs587777646
dbSNP (classic)rs587777646
ClinGenrs587777646
ebirs587777646
HLIrs587777646
Exacrs587777646
Gnomadrs587777646
Varsomers587777646
LitVarrs587777646
Maprs587777646
PheGenIrs587777646
Biobankrs587777646
1000 genomesrs587777646
hgdprs587777646
ensemblrs587777646
geneviewrs587777646
scholarrs587777646
googlers587777646
pharmgkbrs587777646
gwascentralrs587777646
openSNPrs587777646
23andMers587777646
SNPshotrs587777646
SNPdbers587777646
MSV3drs587777646
GWAS Ctlgrs587777646
Max Magnitude0
ClinVar
Risk rs587777646(T;T)
Alt rs587777646(T;T)
Reference Rs587777646(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene METTL23
CLNDBN Mental retardation, autosomal recessive 44
Reversed 0
HGVS NC_000017.10:g.74729449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133534.2,