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rs80338850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338850(A;A)
Make rs80338850(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position31247104
GeneB3GALTL
is asnp
is mentioned by
dbSNPrs80338850
ebirs80338850
HLIrs80338850
Exacrs80338850
Varsomers80338850
Maprs80338850
PheGenIrs80338850
hapmaprs80338850
1000 genomesrs80338850
hgdprs80338850
ensemblrs80338850
gopubmedrs80338850
geneviewrs80338850
scholarrs80338850
googlers80338850
pharmgkbrs80338850
gwascentralrs80338850
openSNPrs80338850
23andMers80338850
23andMe allrs80338850
SNP Nexus

SNPshotrs80338850
SNPdbers80338850
MSV3drs80338850
GWAS Ctlgrs80338850
Max Magnitude0
OMIM610308
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338850(A;A)
Alt rs80338850(A;A)
Reference rs80338850(G;G)
Significance Pathogenic
Disease Peters plus syndrome
Variation info
Gene B3GLCT
CLNDBN Peters plus syndrome
Reversed 0
HGVS NC_000013.10:g.31821241G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001327.1,


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