Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338807

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338807(C;T)
Make rs80338807(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position2922173
GeneLPIN2
is asnp
is mentioned by
dbSNPrs80338807
ebirs80338807
HLIrs80338807
Exacrs80338807
Varsomers80338807
Maprs80338807
PheGenIrs80338807
hapmaprs80338807
1000 genomesrs80338807
hgdprs80338807
ensemblrs80338807
gopubmedrs80338807
geneviewrs80338807
scholarrs80338807
googlers80338807
pharmgkbrs80338807
gwascentralrs80338807
openSNPrs80338807
23andMers80338807
23andMe allrs80338807
SNP Nexus

SNPshotrs80338807
SNPdbers80338807
MSV3drs80338807
GWAS Ctlgrs80338807
Max Magnitude0
OMIM605519
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338807(T;T)
Alt rs80338807(T;T)
Reference rs80338807(C;C)
Significance Pathogenic
Disease Majeed syndrome not provided
Variation info
Gene LPIN2
CLNDBN Majeed syndrome not provided
Reversed 1
HGVS NC_000018.9:g.2922171G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005190.3, RCV000222509.1,


[PMID 2809904] Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.


[PMID 10969284] On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.


[PMID 15994876OA-icon.png] Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).