rs111033721

Orientation

plus

Stabilized

plus

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

Make rs111033721(A;A)

Make rs111033721(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648154

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033721
dbSNP (classic)	rs111033721
ClinGen	rs111033721
ebi	rs111033721
HLI	rs111033721
Exac	rs111033721
Gnomad	rs111033721
Varsome	rs111033721
LitVar	rs111033721
Map	rs111033721
PheGenI	rs111033721
Biobank	rs111033721
1000 genomes	rs111033721
hgdp	rs111033721
ensembl	rs111033721
geneview	rs111033721
scholar	rs111033721
google	rs111033721
pharmgkb	rs111033721
gwascentral	rs111033721
openSNP	rs111033721
23andMe	rs111033721
SNPshot	rs111033721
SNPdbe	rs111033721
MSV3d	rs111033721
GWAS Ctlg	rs111033721

Max Magnitude

0

c.547C>A (p.Pro183Thr); variant of uncertain significance

23andMe name: i5002974

OMIM	606999
Desc
Variant	0011
Related	also

ClinVar
Risk	rs111033721(A;A)
Alt	rs111033721(A;A)
Reference	Rs111033721(C;C)
Significance	Pathogenic
Disease	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation	info
Gene	GALT
CLNDBN	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed	0
HGVS	NC_000009.11:g.34648151C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003803.1,