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rs121908253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908253(C;T)
Make rs121908253(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position59466820
GeneCCBE1
is asnp
is mentioned by
dbSNPrs121908253
ebirs121908253
HLIrs121908253
Exacrs121908253
Varsomers121908253
Maprs121908253
PheGenIrs121908253
hapmaprs121908253
1000 genomesrs121908253
hgdprs121908253
ensemblrs121908253
gopubmedrs121908253
geneviewrs121908253
scholarrs121908253
googlers121908253
pharmgkbrs121908253
gwascentralrs121908253
openSNPrs121908253
23andMers121908253
23andMe allrs121908253
SNP Nexus

SNPshotrs121908253
SNPdbers121908253
MSV3drs121908253
GWAS Ctlgrs121908253
Max Magnitude0
OMIM612753
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908253(G,T;G,T)
Alt rs121908253(G,T;G,T)
Reference rs121908253(C;C)
Significance Pathogenic
Disease Hennekam lymphangiectasia-lymphedema syndrome
Variation info
Gene CCBE1
CLNDBN Hennekam lymphangiectasia-lymphedema syndrome
Reversed 1
HGVS NC_000018.9:g.57134052G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000478.4,


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