rs104894525

Orientation

plus

Stabilized

plus

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

Make rs104894525(A;A)

Make rs104894525(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811116

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894525
dbSNP (classic)	rs104894525
ClinGen	rs104894525
ebi	rs104894525
HLI	rs104894525
Exac	rs104894525
Gnomad	rs104894525
Varsome	rs104894525
LitVar	rs104894525
Map	rs104894525
PheGenI	rs104894525
Biobank	rs104894525
1000 genomes	rs104894525
hgdp	rs104894525
ensembl	rs104894525
geneview	rs104894525
scholar	rs104894525
google	rs104894525
pharmgkb	rs104894525
gwascentral	rs104894525
openSNP	rs104894525
23andMe	rs104894525
SNPshot	rs104894525
SNPdbe	rs104894525
MSV3d	rs104894525
GWAS Ctlg	rs104894525

Max Magnitude

0

OMIM	601785
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894525(A;A)
Alt	rs104894525(A;A)
Reference	Rs104894525(G;G)
Significance	Other
Disease	Carbohydrate-deficient glycoprotein syndrome type I not provided
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I not provided
Reversed	0
HGVS	NC_000016.9:g.8904973G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008147.6, RCV000344673.1,