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rs80338851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338851(A;A)
Make rs80338851(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position31269278
GeneB3GALTL
is asnp
is mentioned by
dbSNPrs80338851
ebirs80338851
HLIrs80338851
Exacrs80338851
Varsomers80338851
Maprs80338851
PheGenIrs80338851
hapmaprs80338851
1000 genomesrs80338851
hgdprs80338851
ensemblrs80338851
gopubmedrs80338851
geneviewrs80338851
scholarrs80338851
googlers80338851
pharmgkbrs80338851
gwascentralrs80338851
openSNPrs80338851
23andMers80338851
23andMe allrs80338851
SNP Nexus

SNPshotrs80338851
SNPdbers80338851
MSV3drs80338851
GWAS Ctlgrs80338851
Max Magnitude0
OMIM610308
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338851(A;A)
Alt rs80338851(A;A)
Reference rs80338851(G;G)
Significance Pathogenic
Disease Peters plus syndrome not provided
Variation info
Gene B3GLCT
CLNDBN Peters plus syndrome not provided
Reversed 0
HGVS NC_000013.10:g.31843415G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001326.2, RCV000082789.4,


[PMID 16909395OA-icon.png] Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.


[PMID 18199743] Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. [PMID 23213277OA-icon.png] Absence of NR2E1 mutations in patients with aniridia.