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rs144972972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144972972(C;C)
Make rs144972972(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position151430154
GeneRMND1
is asnp
is mentioned by
dbSNPrs144972972
ebirs144972972
HLIrs144972972
Exacrs144972972
Varsomers144972972
Maprs144972972
PheGenIrs144972972
hapmaprs144972972
1000 genomesrs144972972
hgdprs144972972
ensemblrs144972972
gopubmedrs144972972
geneviewrs144972972
scholarrs144972972
googlers144972972
pharmgkbrs144972972
gwascentralrs144972972
openSNPrs144972972
23andMers144972972
23andMe allrs144972972
SNP Nexus

SNPshotrs144972972
SNPdbers144972972
MSV3drs144972972
GWAS Ctlgrs144972972
Max Magnitude0
ClinVar
Risk rs144972972(C;C)
Alt rs144972972(C;C)
Reference rs144972972(T;T)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 11
Variation info
Gene RMND1
CLNDBN Combined oxidative phosphorylation deficiency 11
Reversed 0
HGVS NC_000006.11:g.151751289T>C
CLNSRC ClinVar
CLNACC RCV000149406.1,