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rs80338808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338808(C;C)
Make rs80338808(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position2922046
GeneLPIN2
is asnp
is mentioned by
dbSNPrs80338808
ebirs80338808
HLIrs80338808
Exacrs80338808
Varsomers80338808
Maprs80338808
PheGenIrs80338808
hapmaprs80338808
1000 genomesrs80338808
hgdprs80338808
ensemblrs80338808
gopubmedrs80338808
geneviewrs80338808
scholarrs80338808
googlers80338808
pharmgkbrs80338808
gwascentralrs80338808
openSNPrs80338808
23andMers80338808
23andMe allrs80338808
SNP Nexus

SNPshotrs80338808
SNPdbers80338808
MSV3drs80338808
GWAS Ctlgrs80338808
Max Magnitude0
ClinVar
Risk rs80338808(C;C)
Alt rs80338808(C;C)
Reference rs80338808(G;G)
Significance Pathogenic
Disease Majeed syndrome
Variation info
Gene LPIN2
CLNDBN Majeed syndrome
Reversed 1
HGVS NC_000018.9:g.2922044C>G
CLNSRC ClinVar GeneReviews Unité médicale des maladies autoinflammatoires
CLNACC RCV000020709.2,


[PMID 17330256] A splice site mutation confirms the role of LPIN2 in Majeed syndrome.