rs587777116

Orientation

plus

Stabilized

minus

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

Make rs587777116(A;A)

Make rs587777116(A;C)

Reference

GRCh38 38.1/142

Chromosome

20

Position

50942070

Gene	ADNP-AS1, DPM1

is a	snp
is	mentioned by
dbSNP	rs587777116
dbSNP (classic)	rs587777116
ClinGen	rs587777116
ebi	rs587777116
HLI	rs587777116
Exac	rs587777116
Gnomad	rs587777116
Varsome	rs587777116
LitVar	rs587777116
Map	rs587777116
PheGenI	rs587777116
Biobank	rs587777116
1000 genomes	rs587777116
hgdp	rs587777116
ensembl	rs587777116
geneview	rs587777116
scholar	rs587777116
google	rs587777116
pharmgkb	rs587777116
gwascentral	rs587777116
openSNP	rs587777116
23andMe	rs587777116
SNPshot	rs587777116
SNPdbe	rs587777116
MSV3d	rs587777116
GWAS Ctlg	rs587777116

Max Magnitude

0

ClinVar
Risk	rs587777116(A;A) Rs587777116(C;C)
Alt	rs587777116(A;A) Rs587777116(C;C)
Reference	Rs587777116(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1E
Variation	info
Gene	ADNP-AS1 DPM1 LOC101927631
CLNDBN	Congenital disorder of glycosylation type 1E
Reversed	1
HGVS	NC_000020.10:g.49558607C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087036.6,