rs104894531

Orientation

plus

Stabilized

plus

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

Make rs104894531(C;G)

Make rs104894531(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847753

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894531
dbSNP (classic)	rs104894531
ClinGen	rs104894531
ebi	rs104894531
HLI	rs104894531
Exac	rs104894531
Gnomad	rs104894531
Varsome	rs104894531
LitVar	rs104894531
Map	rs104894531
PheGenI	rs104894531
Biobank	rs104894531
1000 genomes	rs104894531
hgdp	rs104894531
ensembl	rs104894531
geneview	rs104894531
scholar	rs104894531
google	rs104894531
pharmgkb	rs104894531
gwascentral	rs104894531
openSNP	rs104894531
23andMe	rs104894531
SNPshot	rs104894531
SNPdbe	rs104894531
MSV3d	rs104894531
GWAS Ctlg	rs104894531

Max Magnitude

0

OMIM	601785
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894531(G;G)
Alt	rs104894531(G;G)
Reference	Rs104894531(C;C)
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.8941610C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008153.3,