rs104894526

Orientation

plus

Stabilized

plus

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

Make rs104894526(C;T)

Make rs104894526(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811674

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894526
dbSNP (classic)	rs104894526
ClinGen	rs104894526
ebi	rs104894526
HLI	rs104894526
Exac	rs104894526
Gnomad	rs104894526
Varsome	rs104894526
LitVar	rs104894526
Map	rs104894526
PheGenI	rs104894526
Biobank	rs104894526
1000 genomes	rs104894526
hgdp	rs104894526
ensembl	rs104894526
geneview	rs104894526
scholar	rs104894526
google	rs104894526
pharmgkb	rs104894526
gwascentral	rs104894526
openSNP	rs104894526
23andMe	rs104894526
SNPshot	rs104894526
SNPdbe	rs104894526
MSV3d	rs104894526
GWAS Ctlg	rs104894526

Max Magnitude

0

OMIM	601785
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894526(T;T)
Alt	rs104894526(T;T)
Reference	Rs104894526(C;C)
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.8905531C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008148.6, RCV000403363.1,