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rs606231472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231472(G;T)
Make rs606231472(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position151436446
GeneRMND1
is asnp
is mentioned by
dbSNPrs606231472
dbSNP (classic)rs606231472
ClinGenrs606231472
ebirs606231472
HLIrs606231472
Exacrs606231472
Gnomadrs606231472
Varsomers606231472
LitVarrs606231472
Maprs606231472
PheGenIrs606231472
Biobankrs606231472
1000 genomesrs606231472
hgdprs606231472
ensemblrs606231472
geneviewrs606231472
scholarrs606231472
googlers606231472
pharmgkbrs606231472
gwascentralrs606231472
openSNPrs606231472
23andMers606231472
SNPshotrs606231472
SNPdbers606231472
MSV3drs606231472
GWAS Ctlgrs606231472
Max Magnitude0
ClinVar
Risk rs606231472(T;T)
Alt rs606231472(T;T)
Reference Rs606231472(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 11
Variation info
Gene RMND1
CLNDBN Combined oxidative phosphorylation deficiency 11
Reversed 1
HGVS NC_000006.11:g.151757581C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149406.1, RCV000415608.1,