rs111033646

Orientation

plus

Stabilized

plus

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

Make rs111033646(A;C)

Make rs111033646(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647119

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033646
dbSNP (classic)	rs111033646
ClinGen	rs111033646
ebi	rs111033646
HLI	rs111033646
Exac	rs111033646
Gnomad	rs111033646
Varsome	rs111033646
LitVar	rs111033646
Map	rs111033646
PheGenI	rs111033646
Biobank	rs111033646
1000 genomes	rs111033646
hgdp	rs111033646
ensembl	rs111033646
geneview	rs111033646
scholar	rs111033646
google	rs111033646
pharmgkb	rs111033646
gwascentral	rs111033646
openSNP	rs111033646
23andMe	rs111033646
SNPshot	rs111033646
SNPdbe	rs111033646
MSV3d	rs111033646
GWAS Ctlg	rs111033646

Max Magnitude

0

ClinVar
Risk	rs111033646(C;C)
Alt	rs111033646(C;C)
Reference	Rs111033646(A;A)
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.34647116A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022054.1,