rs190521996

Orientation

plus

Stabilized

plus

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

Make rs190521996(C;C)

Make rs190521996(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

8811660

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs190521996
dbSNP (classic)	rs190521996
ClinGen	rs190521996
ebi	rs190521996
HLI	rs190521996
Exac	rs190521996
Gnomad	rs190521996
Varsome	rs190521996
LitVar	rs190521996
Map	rs190521996
PheGenI	rs190521996
Biobank	rs190521996
1000 genomes	rs190521996
hgdp	rs190521996
ensembl	rs190521996
geneview	rs190521996
scholar	rs190521996
google	rs190521996
pharmgkb	rs190521996
gwascentral	rs190521996
openSNP	rs190521996
23andMe	rs190521996
SNPshot	rs190521996
SNPdbe	rs190521996
MSV3d	rs190521996
GWAS Ctlg	rs190521996

Max Magnitude

0

ClinVar
Risk	rs190521996(C;C)
Alt	rs190521996(C;C)
Reference	Rs190521996(T;T)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I Congenital disorder of glycosylation not provided
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I Congenital disorder of glycosylation not provided
Reversed	0
HGVS	NC_000016.9:g.8905517T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169083.1, RCV000332761.1, RCV000481553.1,