rs1057516877

Orientation

plus

Stabilized

plus

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

Make rs1057516877(-;C)

Make rs1057516877(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

34649417

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs1057516877
dbSNP (classic)	rs1057516877
ClinGen	rs1057516877
ebi	rs1057516877
HLI	rs1057516877
Exac	rs1057516877
Gnomad	rs1057516877
Varsome	rs1057516877
LitVar	rs1057516877
Map	rs1057516877
PheGenI	rs1057516877
Biobank	rs1057516877
1000 genomes	rs1057516877
hgdp	rs1057516877
ensembl	rs1057516877
geneview	rs1057516877
scholar	rs1057516877
google	rs1057516877
pharmgkb	rs1057516877
gwascentral	rs1057516877
openSNP	rs1057516877
23andMe	rs1057516877
SNPshot	rs1057516877
SNPdbe	rs1057516877
MSV3d	rs1057516877
GWAS Ctlg	rs1057516877

Max Magnitude

0

ClinVar
Risk	rs1057516877(C;C)
Alt	rs1057516877(C;C)
Reference	Rs1057516877(-;-)
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.34649414dupC
CLNSRC
CLNACC	RCV000409549.1,