rs111033658

Orientation

plus

Stabilized

plus

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

Make rs111033658(C;T)

Make rs111033658(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647205

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033658
dbSNP (classic)	rs111033658
ClinGen	rs111033658
ebi	rs111033658
HLI	rs111033658
Exac	rs111033658
Gnomad	rs111033658
Varsome	rs111033658
LitVar	rs111033658
Map	rs111033658
PheGenI	rs111033658
Biobank	rs111033658
1000 genomes	rs111033658
hgdp	rs111033658
ensembl	rs111033658
geneview	rs111033658
scholar	rs111033658
google	rs111033658
pharmgkb	rs111033658
gwascentral	rs111033658
openSNP	rs111033658
23andMe	rs111033658
SNPshot	rs111033658
SNPdbe	rs111033658
MSV3d	rs111033658
GWAS Ctlg	rs111033658

Max Magnitude

0

ClinVar
Risk	rs111033658(T;T)
Alt	rs111033658(T;T)
Reference	Rs111033658(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.34647202C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000022067.4,