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rs121908254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908254(C;C)
Make rs121908254(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position59466772
GeneCCBE1
is asnp
is mentioned by
dbSNPrs121908254
ebirs121908254
HLIrs121908254
Exacrs121908254
Varsomers121908254
Maprs121908254
PheGenIrs121908254
hapmaprs121908254
1000 genomesrs121908254
hgdprs121908254
ensemblrs121908254
gopubmedrs121908254
geneviewrs121908254
scholarrs121908254
googlers121908254
pharmgkbrs121908254
gwascentralrs121908254
openSNPrs121908254
23andMers121908254
23andMe allrs121908254
SNP Nexus

SNPshotrs121908254
SNPdbers121908254
MSV3drs121908254
GWAS Ctlgrs121908254
Max Magnitude0
OMIM612753
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908254(C;C)
Alt rs121908254(C;C)
Reference rs121908254(T;T)
Significance Pathogenic
Disease Hennekam lymphangiectasia-lymphedema syndrome
Variation info
Gene CCBE1
CLNDBN Hennekam lymphangiectasia-lymphedema syndrome
Reversed 1
HGVS NC_000018.9:g.57134004A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000479.4,


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