rs80338850

Orientation

plus

Stabilized

plus

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

Make rs80338850(A;A)

Make rs80338850(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

31247104

Gene

B3GLCT

is a	snp
is	mentioned by
dbSNP	rs80338850
dbSNP (classic)	rs80338850
ClinGen	rs80338850
ebi	rs80338850
HLI	rs80338850
Exac	rs80338850
Gnomad	rs80338850
Varsome	rs80338850
LitVar	rs80338850
Map	rs80338850
PheGenI	rs80338850
Biobank	rs80338850
1000 genomes	rs80338850
hgdp	rs80338850
ensembl	rs80338850
geneview	rs80338850
scholar	rs80338850
google	rs80338850
pharmgkb	rs80338850
gwascentral	rs80338850
openSNP	rs80338850
23andMe	rs80338850
SNPshot	rs80338850
SNPdbe	rs80338850
MSV3d	rs80338850
GWAS Ctlg	rs80338850

Max Magnitude

0

OMIM	610308
Desc
Variant	0002
Related	also

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 16909395] Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.