rs111033655

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(ACCCTCTC;ACCCTCTC)	0	common in clinvar
(CCCTCTCA;CCCTCTCA)	0	common in clinvar
(I;I)	0	common genotype

Make rs111033655(-;-)

Make rs111033655(-;CCCTCTCA)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34647213

Gene

GALT

is a	snp
is	mentioned by
dbSNP	rs111033655
dbSNP (classic)	rs111033655
ClinGen	rs111033655
ebi	rs111033655
HLI	rs111033655
Exac	rs111033655
Gnomad	rs111033655
Varsome	rs111033655
LitVar	rs111033655
Map	rs111033655
PheGenI	rs111033655
Biobank	rs111033655
1000 genomes	rs111033655
hgdp	rs111033655
ensembl	rs111033655
geneview	rs111033655
scholar	rs111033655
google	rs111033655
pharmgkb	rs111033655
gwascentral	rs111033655
openSNP	rs111033655
23andMe	rs111033655
SNPshot	rs111033655
SNPdbe	rs111033655
MSV3d	rs111033655
GWAS Ctlg	rs111033655

Max Magnitude

0

ClinVar
Risk	rs111033655(-;-)
Alt	rs111033655(-;-)
Reference	Rs111033655(ACCCTCTC;ACCCTCTC)
Significance	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.34647210_34647217delCCCTCTCA
CLNSRC	ClinVar
CLNACC	RCV000022068.1,