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rs80338806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs80338806(-;-)
Make rs80338806(-;AT)
ReferenceGRCh38 38.1/141
Chromosome18
Position2951104
GeneLPIN2
is asnp
is mentioned by
dbSNPrs80338806
ebirs80338806
HLIrs80338806
Exacrs80338806
Varsomers80338806
Maprs80338806
PheGenIrs80338806
hapmaprs80338806
1000 genomesrs80338806
hgdprs80338806
ensemblrs80338806
gopubmedrs80338806
geneviewrs80338806
scholarrs80338806
googlers80338806
pharmgkbrs80338806
gwascentralrs80338806
openSNPrs80338806
23andMers80338806
23andMe allrs80338806
SNP Nexus

SNPshotrs80338806
SNPdbers80338806
MSV3drs80338806
GWAS Ctlgrs80338806
Max Magnitude0
ClinVar
Risk rs80338806(;)
Alt rs80338806(;)
Reference rs80338806(AT;AT)
Significance Pathogenic
Disease Majeed syndrome
Variation info
Gene LPIN2
CLNDBN Majeed syndrome
Reversed 1
HGVS NC_000018.9:g.2951102_2951103delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005191.3,


[PMID 11795677] The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.


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