rs104894533

Orientation

plus

Stabilized

plus

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

Make rs104894533(G;G)

Make rs104894533(G;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8801827

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894533
dbSNP (classic)	rs104894533
ClinGen	rs104894533
ebi	rs104894533
HLI	rs104894533
Exac	rs104894533
Gnomad	rs104894533
Varsome	rs104894533
LitVar	rs104894533
Map	rs104894533
PheGenI	rs104894533
Biobank	rs104894533
1000 genomes	rs104894533
hgdp	rs104894533
ensembl	rs104894533
geneview	rs104894533
scholar	rs104894533
google	rs104894533
pharmgkb	rs104894533
gwascentral	rs104894533
openSNP	rs104894533
23andMe	rs104894533
SNPshot	rs104894533
SNPdbe	rs104894533
MSV3d	rs104894533
GWAS Ctlg	rs104894533

Max Magnitude

0

OMIM	601785
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894533(G;G)
Alt	rs104894533(G;G)
Reference	Rs104894533(T;T)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8895684T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008160.4,