rs111033648

Orientation

plus

Stabilized

plus

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

Make rs111033648(A;A)

Make rs111033648(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647158

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033648
dbSNP (classic)	rs111033648
ClinGen	rs111033648
ebi	rs111033648
HLI	rs111033648
Exac	rs111033648
Gnomad	rs111033648
Varsome	rs111033648
LitVar	rs111033648
Map	rs111033648
PheGenI	rs111033648
Biobank	rs111033648
1000 genomes	rs111033648
hgdp	rs111033648
ensembl	rs111033648
geneview	rs111033648
scholar	rs111033648
google	rs111033648
pharmgkb	rs111033648
gwascentral	rs111033648
openSNP	rs111033648
23andMe	rs111033648
SNPshot	rs111033648
SNPdbe	rs111033648
MSV3d	rs111033648
GWAS Ctlg	rs111033648

Max Magnitude

0

ClinVar
Risk	rs111033648(A;A) rs111033648(T;T)
Alt	rs111033648(A;A) rs111033648(T;T)
Reference	Rs111033648(G;G)
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.34647155G>A; NC_000009.11:g.34647155G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022061.1, RCV000022060.1,