rs121908583

Orientation

minus

Stabilized

minus

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

Make rs121908583(C;G)

Make rs121908583(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

50948650

Gene

DPM1

is a	snp
is	mentioned by
dbSNP	rs121908583
dbSNP (classic)	rs121908583
ClinGen	rs121908583
ebi	rs121908583
HLI	rs121908583
Exac	rs121908583
Gnomad	rs121908583
Varsome	rs121908583
LitVar	rs121908583
Map	rs121908583
PheGenI	rs121908583
Biobank	rs121908583
1000 genomes	rs121908583
hgdp	rs121908583
ensembl	rs121908583
geneview	rs121908583
scholar	rs121908583
google	rs121908583
pharmgkb	rs121908583
gwascentral	rs121908583
openSNP	rs121908583
23andMe	rs121908583
SNPshot	rs121908583
SNPdbe	rs121908583
MSV3d	rs121908583
GWAS Ctlg	rs121908583

Max Magnitude

0

OMIM	603503
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908583(A;A) rs121908583(G;G)
Alt	rs121908583(A;A) rs121908583(G;G)
Reference	Rs121908583(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1E
Variation	info
Gene	DPM1
CLNDBN	Congenital disorder of glycosylation type 1E
Reversed	1
HGVS	NC_000020.10:g.49565187G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006676.3,