rs121908253

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121908253(C;T)

Make rs121908253(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

59466820

Gene

CCBE1

is a	snp
is	mentioned by
dbSNP	rs121908253
dbSNP (classic)	rs121908253
ClinGen	rs121908253
ebi	rs121908253
HLI	rs121908253
Exac	rs121908253
Gnomad	rs121908253
Varsome	rs121908253
LitVar	rs121908253
Map	rs121908253
PheGenI	rs121908253
Biobank	rs121908253
1000 genomes	rs121908253
hgdp	rs121908253
ensembl	rs121908253
geneview	rs121908253
scholar	rs121908253
google	rs121908253
pharmgkb	rs121908253
gwascentral	rs121908253
openSNP	rs121908253
23andMe	rs121908253
SNPshot	rs121908253
SNPdbe	rs121908253
MSV3d	rs121908253
GWAS Ctlg	rs121908253

Max Magnitude

0

OMIM	612753
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908253(G;G) rs121908253(T;T)
Alt	rs121908253(G;G) rs121908253(T;T)
Reference	Rs121908253(C;C)
Significance	Pathogenic
Disease	Hennekam lymphangiectasia-lymphedema syndrome not specified
Variation	info
Gene	CCBE1
CLNDBN	Hennekam lymphangiectasia-lymphedema syndrome not specified
Reversed	1
HGVS	NC_000018.9:g.57134052G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000000478.4, RCV000493564.1,

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