rs111033815

Orientation

plus

Stabilized

plus

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

Make rs111033815(A;A)

Make rs111033815(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34649539

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033815
dbSNP (classic)	rs111033815
ClinGen	rs111033815
ebi	rs111033815
HLI	rs111033815
Exac	rs111033815
Gnomad	rs111033815
Varsome	rs111033815
LitVar	rs111033815
Map	rs111033815
PheGenI	rs111033815
Biobank	rs111033815
1000 genomes	rs111033815
hgdp	rs111033815
ensembl	rs111033815
geneview	rs111033815
scholar	rs111033815
google	rs111033815
pharmgkb	rs111033815
gwascentral	rs111033815
openSNP	rs111033815
23andMe	rs111033815
SNPshot	rs111033815
SNPdbe	rs111033815
MSV3d	rs111033815
GWAS Ctlg	rs111033815

Max Magnitude

0

ClinVar
Risk	rs111033815(A;A)
Alt	rs111033815(A;A)
Reference	Rs111033815(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.34649536C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022267.1,