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rs863224892

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224892(A;A)
Make rs863224892(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position99162763
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs863224892
ebirs863224892
HLIrs863224892
Exacrs863224892
Varsomers863224892
Maprs863224892
PheGenIrs863224892
hapmaprs863224892
1000 genomesrs863224892
hgdprs863224892
ensemblrs863224892
gopubmedrs863224892
geneviewrs863224892
scholarrs863224892
googlers863224892
pharmgkbrs863224892
gwascentralrs863224892
openSNPrs863224892
23andMers863224892
23andMe allrs863224892
SNP Nexus

SNPshotrs863224892
SNPdbers863224892
MSV3drs863224892
GWAS Ctlgrs863224892
Max Magnitude0
ClinVar
Risk rs863224892(A;A)
Alt rs863224892(A;A)
Reference rs863224892(G;G)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99779226G>A
CLNSRC
CLNACC RCV000197242.1,