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rs80338852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338852(A;A)
Make rs80338852(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position31317599
GeneB3GALTL
is asnp
is mentioned by
dbSNPrs80338852
ebirs80338852
HLIrs80338852
Exacrs80338852
Varsomers80338852
Maprs80338852
PheGenIrs80338852
hapmaprs80338852
1000 genomesrs80338852
hgdprs80338852
ensemblrs80338852
gopubmedrs80338852
geneviewrs80338852
scholarrs80338852
googlers80338852
pharmgkbrs80338852
gwascentralrs80338852
openSNPrs80338852
23andMers80338852
23andMe allrs80338852
SNP Nexus

SNPshotrs80338852
SNPdbers80338852
MSV3drs80338852
GWAS Ctlgrs80338852
Max Magnitude0
ClinVar
Risk rs80338852(A;A)
Alt rs80338852(A;A)
Reference rs80338852(T;T)
Significance Pathogenic
Disease Peters plus syndrome
Variation info
Gene B3GLCT
CLNDBN Peters plus syndrome
Reversed 0
HGVS NC_000013.10:g.31891736T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021077.1,