rs111033812

Orientation

plus

Stabilized

plus

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

Make rs111033812(A;A)

Make rs111033812(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649529

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033812
dbSNP (classic)	rs111033812
ClinGen	rs111033812
ebi	rs111033812
HLI	rs111033812
Exac	rs111033812
Gnomad	rs111033812
Varsome	rs111033812
LitVar	rs111033812
Map	rs111033812
PheGenI	rs111033812
Biobank	rs111033812
1000 genomes	rs111033812
hgdp	rs111033812
ensembl	rs111033812
geneview	rs111033812
scholar	rs111033812
google	rs111033812
pharmgkb	rs111033812
gwascentral	rs111033812
openSNP	rs111033812
23andMe	rs111033812
SNPshot	rs111033812
SNPdbe	rs111033812
MSV3d	rs111033812
GWAS Ctlg	rs111033812

Max Magnitude

0

ClinVar
Risk	rs111033812(A;A)
Alt	rs111033812(A;A)
Reference	Rs111033812(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.34649526C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022265.1,