rs387906273

Orientation

minus

Stabilized

minus

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

Make rs387906273(C;T)

Make rs387906273(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184248776

Gene	ALG3, ECE2

is a	snp
is	mentioned by
dbSNP	rs387906273
dbSNP (classic)	rs387906273
ClinGen	rs387906273
ebi	rs387906273
HLI	rs387906273
Exac	rs387906273
Gnomad	rs387906273
Varsome	rs387906273
LitVar	rs387906273
Map	rs387906273
PheGenI	rs387906273
Biobank	rs387906273
1000 genomes	rs387906273
hgdp	rs387906273
ensembl	rs387906273
geneview	rs387906273
scholar	rs387906273
google	rs387906273
pharmgkb	rs387906273
gwascentral	rs387906273
openSNP	rs387906273
23andMe	rs387906273
SNPshot	rs387906273
SNPdbe	rs387906273
MSV3d	rs387906273
GWAS Ctlg	rs387906273

Max Magnitude

0

ClinVar
Risk	rs387906273(T;T)
Alt	rs387906273(T;T)
Reference	Rs387906273(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1D
Variation	info
Gene	ALG3 ECE2
CLNDBN	Congenital disorder of glycosylation type 1D
Reversed	1
HGVS	NC_000003.11:g.183966564G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002210.4,