rs1057516720

Orientation

plus

Stabilized

plus

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

Make rs1057516720(A;A)

Make rs1057516720(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34648396

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs1057516720
dbSNP (classic)	rs1057516720
ClinGen	rs1057516720
ebi	rs1057516720
HLI	rs1057516720
Exac	rs1057516720
Gnomad	rs1057516720
Varsome	rs1057516720
LitVar	rs1057516720
Map	rs1057516720
PheGenI	rs1057516720
Biobank	rs1057516720
1000 genomes	rs1057516720
hgdp	rs1057516720
ensembl	rs1057516720
geneview	rs1057516720
scholar	rs1057516720
google	rs1057516720
pharmgkb	rs1057516720
gwascentral	rs1057516720
openSNP	rs1057516720
23andMe	rs1057516720
SNPshot	rs1057516720
SNPdbe	rs1057516720
MSV3d	rs1057516720
GWAS Ctlg	rs1057516720

Max Magnitude

0

ClinVar
Risk	rs1057516720(A;A)
Alt	rs1057516720(A;A)
Reference	Rs1057516720(T;T)
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.34648393T>A
CLNSRC
CLNACC	RCV000409965.1,