rs104894530

Orientation

plus

Stabilized

plus

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

Make rs104894530(C;C)

Make rs104894530(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811080

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894530
dbSNP (classic)	rs104894530
ClinGen	rs104894530
ebi	rs104894530
HLI	rs104894530
Exac	rs104894530
Gnomad	rs104894530
Varsome	rs104894530
LitVar	rs104894530
Map	rs104894530
PheGenI	rs104894530
Biobank	rs104894530
1000 genomes	rs104894530
hgdp	rs104894530
ensembl	rs104894530
geneview	rs104894530
scholar	rs104894530
google	rs104894530
pharmgkb	rs104894530
gwascentral	rs104894530
openSNP	rs104894530
23andMe	rs104894530
SNPshot	rs104894530
SNPdbe	rs104894530
MSV3d	rs104894530
GWAS Ctlg	rs104894530

Max Magnitude

0

OMIM	601785
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894530(C;C)
Alt	rs104894530(C;C)
Reference	Rs104894530(G;G)
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.8904937G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008152.4,