rs111033688

Orientation

plus

Stabilized

plus

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

Make rs111033688(C;T)

Make rs111033688(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647848

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033688
dbSNP (classic)	rs111033688
ClinGen	rs111033688
ebi	rs111033688
HLI	rs111033688
Exac	rs111033688
Gnomad	rs111033688
Varsome	rs111033688
LitVar	rs111033688
Map	rs111033688
PheGenI	rs111033688
Biobank	rs111033688
1000 genomes	rs111033688
hgdp	rs111033688
ensembl	rs111033688
geneview	rs111033688
scholar	rs111033688
google	rs111033688
pharmgkb	rs111033688
gwascentral	rs111033688
openSNP	rs111033688
23andMe	rs111033688
SNPshot	rs111033688
SNPdbe	rs111033688
MSV3d	rs111033688
GWAS Ctlg	rs111033688

Max Magnitude

0

ClinVar
Risk	rs111033688(T;T)
Alt	rs111033688(T;T)
Reference	Rs111033688(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.34647845C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022102.1,