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rs121908250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908250(A;A)
Make rs121908250(A;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position59480228
GeneCCBE1
is asnp
is mentioned by
dbSNPrs121908250
ebirs121908250
HLIrs121908250
Exacrs121908250
Varsomers121908250
Maprs121908250
PheGenIrs121908250
hapmaprs121908250
1000 genomesrs121908250
hgdprs121908250
ensemblrs121908250
gopubmedrs121908250
geneviewrs121908250
scholarrs121908250
googlers121908250
pharmgkbrs121908250
gwascentralrs121908250
openSNPrs121908250
23andMers121908250
23andMe allrs121908250
SNP Nexus

SNPshotrs121908250
SNPdbers121908250
MSV3drs121908250
GWAS Ctlgrs121908250
Max Magnitude0
OMIM612753
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908250(A;A)
Alt rs121908250(A;A)
Reference rs121908250(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.57147460A>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000474.4,


[PMID 19911200] Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

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