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rs587777644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACT;CACT) 0 common in clinvar
(CTCA;CTCA) 0 common in clinvar
(I;I) 0 common genotype
Make rs587777644(-;-)
Make rs587777644(-;CACT)
ReferenceGRCh38 38.1/142
Chromosome17
Position76733062
GeneMETTL23
is asnp
is mentioned by
dbSNPrs587777644
dbSNP (classic)rs587777644
ClinGenrs587777644
ebirs587777644
HLIrs587777644
Exacrs587777644
Gnomadrs587777644
Varsomers587777644
LitVarrs587777644
Maprs587777644
PheGenIrs587777644
Biobankrs587777644
1000 genomesrs587777644
hgdprs587777644
ensemblrs587777644
geneviewrs587777644
scholarrs587777644
googlers587777644
pharmgkbrs587777644
gwascentralrs587777644
openSNPrs587777644
23andMers587777644
SNPshotrs587777644
SNPdbers587777644
MSV3drs587777644
GWAS Ctlgrs587777644
Max Magnitude0
ClinVar
Risk rs587777644(-;-) Rs587777644(CTCA;CTCA)
Alt rs587777644(-;-) Rs587777644(CTCA;CTCA)
Reference Rs587777644(CACT;CACT)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene METTL23
CLNDBN Mental retardation, autosomal recessive 44
Reversed 0
HGVS NC_000017.10:g.74729144_74729147delCACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000133532.2,