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rs143697995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143697995(G;G)
Make rs143697995(G;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position223959821
GeneMRPL44
is asnp
is mentioned by
dbSNPrs143697995
ebirs143697995
HLIrs143697995
Exacrs143697995
Varsomers143697995
Maprs143697995
PheGenIrs143697995
hapmaprs143697995
1000 genomesrs143697995
hgdprs143697995
ensemblrs143697995
gopubmedrs143697995
geneviewrs143697995
scholarrs143697995
googlers143697995
pharmgkbrs143697995
gwascentralrs143697995
openSNPrs143697995
23andMers143697995
23andMe allrs143697995
SNP Nexus

SNPshotrs143697995
SNPdbers143697995
MSV3drs143697995
GWAS Ctlgrs143697995
Max Magnitude0
ClinVar
Risk rs143697995(C,G;C,G)
Alt rs143697995(C,G;C,G)
Reference rs143697995(T;T)
Significance Other
Disease Combined oxidative phosphorylation deficiency 16 not provided
Variation info
Gene MRPL44
CLNDBN Combined oxidative phosphorylation deficiency 16 not provided
Reversed 0
HGVS NC_000002.11:g.224824538T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054810.2, RCV000198356.1,