rs104894586

Orientation

plus

Stabilized

plus

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

Make rs104894586(A;A)

Make rs104894586(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7585994

Gene	LOC100996842, MPDU1

is a	snp
is	mentioned by
dbSNP	rs104894586
dbSNP (classic)	rs104894586
ClinGen	rs104894586
ebi	rs104894586
HLI	rs104894586
Exac	rs104894586
Gnomad	rs104894586
Varsome	rs104894586
LitVar	rs104894586
Map	rs104894586
PheGenI	rs104894586
Biobank	rs104894586
1000 genomes	rs104894586
hgdp	rs104894586
ensembl	rs104894586
geneview	rs104894586
scholar	rs104894586
google	rs104894586
pharmgkb	rs104894586
gwascentral	rs104894586
openSNP	rs104894586
23andMe	rs104894586
SNPshot	rs104894586
SNPdbe	rs104894586
MSV3d	rs104894586
GWAS Ctlg	rs104894586

Max Magnitude

0

OMIM	604041
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894586(A;A)
Alt	rs104894586(A;A)
Reference	Rs104894586(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1F not specified
Variation	info
Gene	LOC100996842 MPDU1
CLNDBN	Congenital disorder of glycosylation type 1F not specified
Reversed	0
HGVS	NC_000017.10:g.7489312G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006225.3, RCV000081186.5,