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rs121908252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908252(C;C)
Make rs121908252(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position59438119
GeneCCBE1
is asnp
is mentioned by
dbSNPrs121908252
ebirs121908252
HLIrs121908252
Exacrs121908252
Varsomers121908252
Maprs121908252
PheGenIrs121908252
hapmaprs121908252
1000 genomesrs121908252
hgdprs121908252
ensemblrs121908252
gopubmedrs121908252
geneviewrs121908252
scholarrs121908252
googlers121908252
pharmgkbrs121908252
gwascentralrs121908252
openSNPrs121908252
23andMers121908252
23andMe allrs121908252
SNP Nexus

SNPshotrs121908252
SNPdbers121908252
MSV3drs121908252
GWAS Ctlgrs121908252
Max Magnitude0
OMIM612753
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908252(C;C)
Alt rs121908252(C;C)
Reference rs121908252(G;G)
Significance Pathogenic
Disease Hennekam lymphangiectasia-lymphedema syndrome
Variation info
Gene CCBE1
CLNDBN Hennekam lymphangiectasia-lymphedema syndrome
Reversed 1
HGVS NC_000018.9:g.57105351C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000476.4,


[PMID 19935664] Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.