rs104894494

Orientation

plus

Stabilized

plus

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

Make rs104894494(C;T)

Make rs104894494(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

74891539

Gene

MPI

is a	snp
is	mentioned by
dbSNP	rs104894494
dbSNP (classic)	rs104894494
ClinGen	rs104894494
ebi	rs104894494
HLI	rs104894494
Exac	rs104894494
Gnomad	rs104894494
Varsome	rs104894494
LitVar	rs104894494
Map	rs104894494
PheGenI	rs104894494
Biobank	rs104894494
1000 genomes	rs104894494
hgdp	rs104894494
ensembl	rs104894494
geneview	rs104894494
scholar	rs104894494
google	rs104894494
pharmgkb	rs104894494
gwascentral	rs104894494
openSNP	rs104894494
23andMe	rs104894494
SNPshot	rs104894494
SNPdbe	rs104894494
MSV3d	rs104894494
GWAS Ctlg	rs104894494

Max Magnitude

0

OMIM	154550
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894494(T;T)
Alt	rs104894494(T;T)
Reference	Rs104894494(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1B
Variation	info
Gene	MPI
CLNDBN	Congenital disorder of glycosylation type 1B
Reversed	0
HGVS	NC_000015.9:g.75183880C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015420.28,