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rs587777689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777689(A;G)
Make rs587777689(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position57782862
GeneMETTL21B, TSFM
is asnp
is mentioned by
dbSNPrs587777689
dbSNP (classic)rs587777689
ClinGenrs587777689
ebirs587777689
HLIrs587777689
Exacrs587777689
Gnomadrs587777689
Varsomers587777689
LitVarrs587777689
Maprs587777689
PheGenIrs587777689
Biobankrs587777689
1000 genomesrs587777689
hgdprs587777689
ensemblrs587777689
geneviewrs587777689
scholarrs587777689
googlers587777689
pharmgkbrs587777689
gwascentralrs587777689
openSNPrs587777689
23andMers587777689
SNPshotrs587777689
SNPdbers587777689
MSV3drs587777689
GWAS Ctlgrs587777689
Max Magnitude0
ClinVar
Risk rs587777689(G;G)
Alt rs587777689(G;G)
Reference Rs587777689(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 3
Variation info
Gene METTL21B TSFM
CLNDBN Combined oxidative phosphorylation deficiency 3
Reversed 0
HGVS NC_000012.11:g.58176645A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000143785.3,