rs111033751

Orientation

plus

Stabilized

plus

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

Make rs111033751(C;G)

Make rs111033751(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648445

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033751
dbSNP (classic)	rs111033751
ClinGen	rs111033751
ebi	rs111033751
HLI	rs111033751
Exac	rs111033751
Gnomad	rs111033751
Varsome	rs111033751
LitVar	rs111033751
Map	rs111033751
PheGenI	rs111033751
Biobank	rs111033751
1000 genomes	rs111033751
hgdp	rs111033751
ensembl	rs111033751
geneview	rs111033751
scholar	rs111033751
google	rs111033751
pharmgkb	rs111033751
gwascentral	rs111033751
openSNP	rs111033751
23andMe	rs111033751
SNPshot	rs111033751
SNPdbe	rs111033751
MSV3d	rs111033751
GWAS Ctlg	rs111033751

Max Magnitude

0

ClinVar
Risk	rs111033751(G;G)
Alt	rs111033751(G;G)
Reference	Rs111033751(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.34648442C>G
CLNSRC	ARUP GALT
CLNACC	RCV000022179.1,