rs104894589

Orientation

plus

Stabilized

plus

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

Make rs104894589(C;C)

Make rs104894589(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7585997

Gene	LOC100996842, MPDU1

is a	snp
is	mentioned by
dbSNP	rs104894589
dbSNP (classic)	rs104894589
ClinGen	rs104894589
ebi	rs104894589
HLI	rs104894589
Exac	rs104894589
Gnomad	rs104894589
Varsome	rs104894589
LitVar	rs104894589
Map	rs104894589
PheGenI	rs104894589
Biobank	rs104894589
1000 genomes	rs104894589
hgdp	rs104894589
ensembl	rs104894589
geneview	rs104894589
scholar	rs104894589
google	rs104894589
pharmgkb	rs104894589
gwascentral	rs104894589
openSNP	rs104894589
23andMe	rs104894589
SNPshot	rs104894589
SNPdbe	rs104894589
MSV3d	rs104894589
GWAS Ctlg	rs104894589

Max Magnitude

0

OMIM	604041
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894589(C;C)
Alt	rs104894589(C;C)
Reference	Rs104894589(T;T)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1F
Variation	info
Gene	LOC100996842 MPDU1
CLNDBN	Congenital disorder of glycosylation type 1F
Reversed	0
HGVS	NC_000017.10:g.7489315T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006229.3,