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rs121908251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908251(C;C)
Make rs121908251(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position59469568
GeneCCBE1
is asnp
is mentioned by
dbSNPrs121908251
ebirs121908251
HLIrs121908251
Exacrs121908251
Varsomers121908251
Maprs121908251
PheGenIrs121908251
hapmaprs121908251
1000 genomesrs121908251
hgdprs121908251
ensemblrs121908251
gopubmedrs121908251
geneviewrs121908251
scholarrs121908251
googlers121908251
pharmgkbrs121908251
gwascentralrs121908251
openSNPrs121908251
23andMers121908251
23andMe allrs121908251
SNP Nexus

SNPshotrs121908251
SNPdbers121908251
MSV3drs121908251
GWAS Ctlgrs121908251
Max Magnitude0
OMIM612753
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908251(C;C)
Alt rs121908251(C;C)
Reference rs121908251(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.57136800C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000475.4,


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