rs139716296

Orientation

plus

Stabilized

plus

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

Make rs139716296(C;C)

Make rs139716296(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

8804845

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs139716296
dbSNP (classic)	rs139716296
ClinGen	rs139716296
ebi	rs139716296
HLI	rs139716296
Exac	rs139716296
Gnomad	rs139716296
Varsome	rs139716296
LitVar	rs139716296
Map	rs139716296
PheGenI	rs139716296
Biobank	rs139716296
1000 genomes	rs139716296
hgdp	rs139716296
ensembl	rs139716296
geneview	rs139716296
scholar	rs139716296
google	rs139716296
pharmgkb	rs139716296
gwascentral	rs139716296
openSNP	rs139716296
23andMe	rs139716296
SNPshot	rs139716296
SNPdbe	rs139716296
MSV3d	rs139716296
GWAS Ctlg	rs139716296

Max Magnitude

0

ClinVar
Risk	rs139716296(C;C)
Alt	rs139716296(C;C)
Reference	Rs139716296(T;T)
Significance	Probable-Pathogenic
Disease	Congenital disorder of glycosylation Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	Congenital disorder of glycosylation Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8898702T>C
CLNSRC	Illumina
CLNACC	RCV000357247.1, RCV000410938.1,