rs111033680

Orientation

plus

Stabilized

plus

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

Make rs111033680(C;C)

Make rs111033680(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647702

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033680
dbSNP (classic)	rs111033680
ClinGen	rs111033680
ebi	rs111033680
HLI	rs111033680
Exac	rs111033680
Gnomad	rs111033680
Varsome	rs111033680
LitVar	rs111033680
Map	rs111033680
PheGenI	rs111033680
Biobank	rs111033680
1000 genomes	rs111033680
hgdp	rs111033680
ensembl	rs111033680
geneview	rs111033680
scholar	rs111033680
google	rs111033680
pharmgkb	rs111033680
gwascentral	rs111033680
openSNP	rs111033680
23andMe	rs111033680
SNPshot	rs111033680
SNPdbe	rs111033680
MSV3d	rs111033680
GWAS Ctlg	rs111033680

Max Magnitude

0

ClinVar
Risk	rs111033680(C;C)
Alt	rs111033680(C;C)
Reference	Rs111033680(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.34647699T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022094.1,