rs111033687

Orientation

plus

Stabilized

plus

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

Make rs111033687(C;C)

Make rs111033687(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647870

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033687
dbSNP (classic)	rs111033687
ClinGen	rs111033687
ebi	rs111033687
HLI	rs111033687
Exac	rs111033687
Gnomad	rs111033687
Varsome	rs111033687
LitVar	rs111033687
Map	rs111033687
PheGenI	rs111033687
Biobank	rs111033687
1000 genomes	rs111033687
hgdp	rs111033687
ensembl	rs111033687
geneview	rs111033687
scholar	rs111033687
google	rs111033687
pharmgkb	rs111033687
gwascentral	rs111033687
openSNP	rs111033687
23andMe	rs111033687
SNPshot	rs111033687
SNPdbe	rs111033687
MSV3d	rs111033687
GWAS Ctlg	rs111033687

Max Magnitude

0

ClinVar
Risk	rs111033687(C;C)
Alt	rs111033687(C;C)
Reference	Rs111033687(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.34647867T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022108.1,