rs367543257

Orientation

plus

Stabilized

plus

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

Make rs367543257(C;G)

Make rs367543257(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647950

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs367543257
dbSNP (classic)	rs367543257
ClinGen	rs367543257
ebi	rs367543257
HLI	rs367543257
Exac	rs367543257
Gnomad	rs367543257
Varsome	rs367543257
LitVar	rs367543257
Map	rs367543257
PheGenI	rs367543257
Biobank	rs367543257
1000 genomes	rs367543257
hgdp	rs367543257
ensembl	rs367543257
geneview	rs367543257
scholar	rs367543257
google	rs367543257
pharmgkb	rs367543257
gwascentral	rs367543257
openSNP	rs367543257
23andMe	rs367543257
SNPshot	rs367543257
SNPdbe	rs367543257
MSV3d	rs367543257
GWAS Ctlg	rs367543257

Max Magnitude

0

ClinVar
Risk	rs367543257(G;G)
Alt	rs367543257(G;G)
Reference	Rs367543257(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.34647947C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000022123.1,