rs1057517240

Orientation

plus

Stabilized

plus

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

Make rs1057517240(-;T)

Make rs1057517240(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34648835

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs1057517240
dbSNP (classic)	rs1057517240
ClinGen	rs1057517240
ebi	rs1057517240
HLI	rs1057517240
Exac	rs1057517240
Gnomad	rs1057517240
Varsome	rs1057517240
LitVar	rs1057517240
Map	rs1057517240
PheGenI	rs1057517240
Biobank	rs1057517240
1000 genomes	rs1057517240
hgdp	rs1057517240
ensembl	rs1057517240
geneview	rs1057517240
scholar	rs1057517240
google	rs1057517240
pharmgkb	rs1057517240
gwascentral	rs1057517240
openSNP	rs1057517240
23andMe	rs1057517240
SNPshot	rs1057517240
SNPdbe	rs1057517240
MSV3d	rs1057517240
GWAS Ctlg	rs1057517240

Max Magnitude

0

ClinVar
Risk	rs1057517240(T;T)
Alt	rs1057517240(T;T)
Reference	Rs1057517240(-;-)
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.34648832dupT
CLNSRC
CLNACC	RCV000410683.1,