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rs863224893

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224893(G;G)
Make rs863224893(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position99162937
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs863224893
ebirs863224893
HLIrs863224893
Exacrs863224893
Varsomers863224893
Maprs863224893
PheGenIrs863224893
hapmaprs863224893
1000 genomesrs863224893
hgdprs863224893
ensemblrs863224893
gopubmedrs863224893
geneviewrs863224893
scholarrs863224893
googlers863224893
pharmgkbrs863224893
gwascentralrs863224893
openSNPrs863224893
23andMers863224893
23andMe allrs863224893
SNP Nexus

SNPshotrs863224893
SNPdbers863224893
MSV3drs863224893
GWAS Ctlgrs863224893
Max Magnitude0
ClinVar
Risk rs863224893(G;G)
Alt rs863224893(G;G)
Reference rs863224893(T;T)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99779400T>G
CLNSRC
CLNACC RCV000197242.1,