rs111033649

Orientation

plus

Stabilized

plus

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

Make rs111033649(C;T)

Make rs111033649(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647166

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033649
dbSNP (classic)	rs111033649
ClinGen	rs111033649
ebi	rs111033649
HLI	rs111033649
Exac	rs111033649
Gnomad	rs111033649
Varsome	rs111033649
LitVar	rs111033649
Map	rs111033649
PheGenI	rs111033649
Biobank	rs111033649
1000 genomes	rs111033649
hgdp	rs111033649
ensembl	rs111033649
geneview	rs111033649
scholar	rs111033649
google	rs111033649
pharmgkb	rs111033649
gwascentral	rs111033649
openSNP	rs111033649
23andMe	rs111033649
SNPshot	rs111033649
SNPdbe	rs111033649
MSV3d	rs111033649
GWAS Ctlg	rs111033649

Max Magnitude

0

ClinVar
Risk	rs111033649(T;T)
Alt	rs111033649(T;T)
Reference	Rs111033649(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.34647163C>T
CLNSRC	ARUP GALT
CLNACC	RCV000022062.1,