rs111033663

Orientation

plus

Stabilized

plus

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

Make rs111033663(C;C)

Make rs111033663(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647227

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033663
dbSNP (classic)	rs111033663
ClinGen	rs111033663
ebi	rs111033663
HLI	rs111033663
Exac	rs111033663
Gnomad	rs111033663
Varsome	rs111033663
LitVar	rs111033663
Map	rs111033663
PheGenI	rs111033663
Biobank	rs111033663
1000 genomes	rs111033663
hgdp	rs111033663
ensembl	rs111033663
geneview	rs111033663
scholar	rs111033663
google	rs111033663
pharmgkb	rs111033663
gwascentral	rs111033663
openSNP	rs111033663
23andMe	rs111033663
SNPshot	rs111033663
SNPdbe	rs111033663
MSV3d	rs111033663
GWAS Ctlg	rs111033663

Max Magnitude

0

OMIM	606999
Desc
Variant	0007
Related	also

ClinVar
Risk	rs111033663(C;C) rs111033663(G;G)
Alt	rs111033663(C;C) rs111033663(G;G)
Reference	Rs111033663(T;T)
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.34647224T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003799.1,