rs397514503

Orientation

minus

Stabilized

minus

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

Make rs397514503(A;G)

Make rs397514503(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127937459

Gene

DPM2

is a	snp
is	mentioned by
dbSNP	rs397514503
dbSNP (classic)	rs397514503
ClinGen	rs397514503
ebi	rs397514503
HLI	rs397514503
Exac	rs397514503
Gnomad	rs397514503
Varsome	rs397514503
LitVar	rs397514503
Map	rs397514503
PheGenI	rs397514503
Biobank	rs397514503
1000 genomes	rs397514503
hgdp	rs397514503
ensembl	rs397514503
geneview	rs397514503
scholar	rs397514503
google	rs397514503
pharmgkb	rs397514503
gwascentral	rs397514503
openSNP	rs397514503
23andMe	rs397514503
SNPshot	rs397514503
SNPdbe	rs397514503
MSV3d	rs397514503
GWAS Ctlg	rs397514503

Max Magnitude

0

ClinVar
Risk	rs397514503(G;G)
Alt	rs397514503(G;G)
Reference	Rs397514503(A;A)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1u
Variation	info
Gene	DPM2
CLNDBN	Congenital disorder of glycosylation type 1u
Reversed	1
HGVS	NC_000009.11:g.130699738T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032641.4,