rs111033750

Orientation

plus

Stabilized

plus

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

Make rs111033750(A;A)

Make rs111033750(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34648436

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033750
dbSNP (classic)	rs111033750
ClinGen	rs111033750
ebi	rs111033750
HLI	rs111033750
Exac	rs111033750
Gnomad	rs111033750
Varsome	rs111033750
LitVar	rs111033750
Map	rs111033750
PheGenI	rs111033750
Biobank	rs111033750
1000 genomes	rs111033750
hgdp	rs111033750
ensembl	rs111033750
geneview	rs111033750
scholar	rs111033750
google	rs111033750
pharmgkb	rs111033750
gwascentral	rs111033750
openSNP	rs111033750
23andMe	rs111033750
SNPshot	rs111033750
SNPdbe	rs111033750
MSV3d	rs111033750
GWAS Ctlg	rs111033750

Max Magnitude

0

ClinVar
Risk	rs111033750(A;A) rs111033750(T;T)
Alt	rs111033750(A;A) rs111033750(T;T)
Reference	Rs111033750(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.34648433C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022178.1,