rs104894495

Orientation

plus

Stabilized

plus

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

Make rs104894495(C;C)

Make rs104894495(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

74892728

Gene

MPI

is a	snp
is	mentioned by
dbSNP	rs104894495
dbSNP (classic)	rs104894495
ClinGen	rs104894495
ebi	rs104894495
HLI	rs104894495
Exac	rs104894495
Gnomad	rs104894495
Varsome	rs104894495
LitVar	rs104894495
Map	rs104894495
PheGenI	rs104894495
Biobank	rs104894495
1000 genomes	rs104894495
hgdp	rs104894495
ensembl	rs104894495
geneview	rs104894495
scholar	rs104894495
google	rs104894495
pharmgkb	rs104894495
gwascentral	rs104894495
openSNP	rs104894495
23andMe	rs104894495
SNPshot	rs104894495
SNPdbe	rs104894495
MSV3d	rs104894495
GWAS Ctlg	rs104894495

Max Magnitude

0

OMIM	154550
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894495(C;C)
Alt	rs104894495(C;C)
Reference	Rs104894495(T;T)
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.75185069T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015421.29,