rs111033679

Orientation

plus

Stabilized

plus

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

Make rs111033679(C;C)

Make rs111033679(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647678

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033679
dbSNP (classic)	rs111033679
ClinGen	rs111033679
ebi	rs111033679
HLI	rs111033679
Exac	rs111033679
Gnomad	rs111033679
Varsome	rs111033679
LitVar	rs111033679
Map	rs111033679
PheGenI	rs111033679
Biobank	rs111033679
1000 genomes	rs111033679
hgdp	rs111033679
ensembl	rs111033679
geneview	rs111033679
scholar	rs111033679
google	rs111033679
pharmgkb	rs111033679
gwascentral	rs111033679
openSNP	rs111033679
23andMe	rs111033679
SNPshot	rs111033679
SNPdbe	rs111033679
MSV3d	rs111033679
GWAS Ctlg	rs111033679

Max Magnitude

0

ClinVar
Risk	rs111033679(C;C)
Alt	rs111033679(C;C)
Reference	Rs111033679(T;T)
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.34647675T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022091.1,