rs367543269

Orientation

plus

Stabilized

plus

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

Make rs367543269(-;CC)

Make rs367543269(CC;CC)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647853

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs367543269
dbSNP (classic)	rs367543269
ClinGen	rs367543269
ebi	rs367543269
HLI	rs367543269
Exac	rs367543269
Gnomad	rs367543269
Varsome	rs367543269
LitVar	rs367543269
Map	rs367543269
PheGenI	rs367543269
Biobank	rs367543269
1000 genomes	rs367543269
hgdp	rs367543269
ensembl	rs367543269
geneview	rs367543269
scholar	rs367543269
google	rs367543269
pharmgkb	rs367543269
gwascentral	rs367543269
openSNP	rs367543269
23andMe	rs367543269
SNPshot	rs367543269
SNPdbe	rs367543269
MSV3d	rs367543269
GWAS Ctlg	rs367543269

Max Magnitude

0

ClinVar
Risk	rs367543269(CC;CC)
Alt	rs367543269(CC;CC)
Reference	Rs367543269(-;-)
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.34647849_34647850dupCC
CLNSRC	ARUP GALT
CLNACC	RCV000032011.1,