rs200503569

Orientation

plus

Stabilized

plus

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

Make rs200503569(C;T)

Make rs200503569(T;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

8806383

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs200503569
dbSNP (classic)	rs200503569
ClinGen	rs200503569
ebi	rs200503569
HLI	rs200503569
Exac	rs200503569
Gnomad	rs200503569
Varsome	rs200503569
LitVar	rs200503569
Map	rs200503569
PheGenI	rs200503569
Biobank	rs200503569
1000 genomes	rs200503569
hgdp	rs200503569
ensembl	rs200503569
geneview	rs200503569
scholar	rs200503569
google	rs200503569
pharmgkb	rs200503569
gwascentral	rs200503569
openSNP	rs200503569
23andMe	rs200503569
SNPshot	rs200503569
SNPdbe	rs200503569
MSV3d	rs200503569
GWAS Ctlg	rs200503569

Max Magnitude

0

ClinVar
Risk	rs200503569(T;T)
Alt	rs200503569(T;T)
Reference	Rs200503569(C;C)
Significance	Probable-Pathogenic
Disease	not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8900240C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078587.3, RCV000178072.1,