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rs318240736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs318240736(-;-)
Make rs318240736(-;CT)
ReferenceGRCh38 38.1/141
Chromosome18
Position2931395
GeneLPIN2
is asnp
is mentioned by
dbSNPrs318240736
ebirs318240736
HLIrs318240736
Exacrs318240736
Varsomers318240736
Maprs318240736
PheGenIrs318240736
hapmaprs318240736
1000 genomesrs318240736
hgdprs318240736
ensemblrs318240736
gopubmedrs318240736
geneviewrs318240736
scholarrs318240736
googlers318240736
pharmgkbrs318240736
gwascentralrs318240736
openSNPrs318240736
23andMers318240736
23andMe allrs318240736
SNP Nexus

SNPshotrs318240736
SNPdbers318240736
MSV3drs318240736
GWAS Ctlgrs318240736
Max Magnitude0
ClinVar
Risk rs318240736(;)
Alt rs318240736(;)
Reference rs318240736(CT;CT)
Significance Pathogenic
Disease Majeed syndrome
Variation info
Gene LPIN2
CLNDBN Majeed syndrome
Reversed 1
HGVS NC_000018.9:g.2931393_2931394delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034150.2,


[PMID 23087183OA-icon.png] Efficacy of anti-IL-1 treatment in Majeed syndrome.