rs1057516883

Orientation

plus

Stabilized

plus

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

Make rs1057516883(-;-)

Make rs1057516883(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34648439

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs1057516883
dbSNP (classic)	rs1057516883
ClinGen	rs1057516883
ebi	rs1057516883
HLI	rs1057516883
Exac	rs1057516883
Gnomad	rs1057516883
Varsome	rs1057516883
LitVar	rs1057516883
Map	rs1057516883
PheGenI	rs1057516883
Biobank	rs1057516883
1000 genomes	rs1057516883
hgdp	rs1057516883
ensembl	rs1057516883
geneview	rs1057516883
scholar	rs1057516883
google	rs1057516883
pharmgkb	rs1057516883
gwascentral	rs1057516883
openSNP	rs1057516883
23andMe	rs1057516883
SNPshot	rs1057516883
SNPdbe	rs1057516883
MSV3d	rs1057516883
GWAS Ctlg	rs1057516883

Max Magnitude

0

ClinVar
Risk	rs1057516883(-;-)
Alt	rs1057516883(-;-)
Reference	Rs1057516883(C;C)
Significance	Probable-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.34648436delC
CLNSRC
CLNACC	RCV000410093.1,