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rs2229311

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2229311(A;A)
Make rs2229311(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position40407640
GeneIVD
is asnp
is mentioned by
dbSNPrs2229311
ebirs2229311
HLIrs2229311
Exacrs2229311
Varsomers2229311
Maprs2229311
PheGenIrs2229311
hapmaprs2229311
1000 genomesrs2229311
hgdprs2229311
ensemblrs2229311
gopubmedrs2229311
geneviewrs2229311
scholarrs2229311
googlers2229311
pharmgkbrs2229311
gwascentralrs2229311
openSNPrs2229311
23andMers2229311
23andMe allrs2229311
SNP Nexus

SNPshotrs2229311
SNPdbers2229311
MSV3drs2229311
GWAS Ctlgrs2229311
Max Magnitude0
ClinVar
Risk rs2229311(A,C;A,C)
Alt rs2229311(A,C;A,C)
Reference rs2229311(G;G)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40699841G>C
CLNSRC
CLNACC RCV000169289.1,