rs104894588

Orientation

plus

Stabilized

plus

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

Make rs104894588(C;C)

Make rs104894588(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7583864

Gene	LOC100996842, MPDU1

is a	snp
is	mentioned by
dbSNP	rs104894588
dbSNP (classic)	rs104894588
ClinGen	rs104894588
ebi	rs104894588
HLI	rs104894588
Exac	rs104894588
Gnomad	rs104894588
Varsome	rs104894588
LitVar	rs104894588
Map	rs104894588
PheGenI	rs104894588
Biobank	rs104894588
1000 genomes	rs104894588
hgdp	rs104894588
ensembl	rs104894588
geneview	rs104894588
scholar	rs104894588
google	rs104894588
pharmgkb	rs104894588
gwascentral	rs104894588
openSNP	rs104894588
23andMe	rs104894588
SNPshot	rs104894588
SNPdbe	rs104894588
MSV3d	rs104894588
GWAS Ctlg	rs104894588

Max Magnitude

0

OMIM	604041
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894588(C;C)
Alt	rs104894588(C;C)
Reference	Rs104894588(T;T)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1F
Variation	info
Gene	MPDU1 LOC100996842
CLNDBN	Congenital disorder of glycosylation type 1F
Reversed	0
HGVS	NC_000017.10:g.7487182T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006227.3,