rs111033667

Orientation

plus

Stabilized

plus

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

Make rs111033667(A;C)

Make rs111033667(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647655

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033667
dbSNP (classic)	rs111033667
ClinGen	rs111033667
ebi	rs111033667
HLI	rs111033667
Exac	rs111033667
Gnomad	rs111033667
Varsome	rs111033667
LitVar	rs111033667
Map	rs111033667
PheGenI	rs111033667
Biobank	rs111033667
1000 genomes	rs111033667
hgdp	rs111033667
ensembl	rs111033667
geneview	rs111033667
scholar	rs111033667
google	rs111033667
pharmgkb	rs111033667
gwascentral	rs111033667
openSNP	rs111033667
23andMe	rs111033667
SNPshot	rs111033667
SNPdbe	rs111033667
MSV3d	rs111033667
GWAS Ctlg	rs111033667

Max Magnitude

0

ClinVar
Risk	rs111033667(C;C)
Alt	rs111033667(C;C)
Reference	Rs111033667(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.34647652A>C
CLNSRC	ARUP GALT
CLNACC	RCV000022085.1,