rs1057517415

Orientation

plus

Stabilized

plus

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

Make rs1057517415(A;G)

Make rs1057517415(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34647087

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs1057517415
dbSNP (classic)	rs1057517415
ClinGen	rs1057517415
ebi	rs1057517415
HLI	rs1057517415
Exac	rs1057517415
Gnomad	rs1057517415
Varsome	rs1057517415
LitVar	rs1057517415
Map	rs1057517415
PheGenI	rs1057517415
Biobank	rs1057517415
1000 genomes	rs1057517415
hgdp	rs1057517415
ensembl	rs1057517415
geneview	rs1057517415
scholar	rs1057517415
google	rs1057517415
pharmgkb	rs1057517415
gwascentral	rs1057517415
openSNP	rs1057517415
23andMe	rs1057517415
SNPshot	rs1057517415
SNPdbe	rs1057517415
MSV3d	rs1057517415
GWAS Ctlg	rs1057517415

Max Magnitude

0

ClinVar
Risk	rs1057517415(G;G)
Alt	rs1057517415(G;G)
Reference	Rs1057517415(A;A)
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.34647084A>G
CLNSRC
CLNACC	RCV000409485.1,