rs104894587

Orientation

plus

Stabilized

plus

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

Make rs104894587(C;C)

Make rs104894587(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7586745

Gene

MPDU1

is a	snp
is	mentioned by
dbSNP	rs104894587
dbSNP (classic)	rs104894587
ClinGen	rs104894587
ebi	rs104894587
HLI	rs104894587
Exac	rs104894587
Gnomad	rs104894587
Varsome	rs104894587
LitVar	rs104894587
Map	rs104894587
PheGenI	rs104894587
Biobank	rs104894587
1000 genomes	rs104894587
hgdp	rs104894587
ensembl	rs104894587
geneview	rs104894587
scholar	rs104894587
google	rs104894587
pharmgkb	rs104894587
gwascentral	rs104894587
openSNP	rs104894587
23andMe	rs104894587
SNPshot	rs104894587
SNPdbe	rs104894587
MSV3d	rs104894587
GWAS Ctlg	rs104894587

Max Magnitude

0

OMIM	604041
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894587(C;C)
Alt	rs104894587(C;C)
Reference	Rs104894587(T;T)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1F
Variation	info
Gene	MPDU1
CLNDBN	Congenital disorder of glycosylation type 1F
Reversed	0
HGVS	NC_000017.10:g.7490063T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006226.3,