rs532870929

Orientation

plus

Stabilized

plus

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

Make rs532870929(C;C)

Make rs532870929(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

8813087

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs532870929
dbSNP (classic)	rs532870929
ClinGen	rs532870929
ebi	rs532870929
HLI	rs532870929
Exac	rs532870929
Gnomad	rs532870929
Varsome	rs532870929
LitVar	rs532870929
Map	rs532870929
PheGenI	rs532870929
Biobank	rs532870929
1000 genomes	rs532870929
hgdp	rs532870929
ensembl	rs532870929
geneview	rs532870929
scholar	rs532870929
google	rs532870929
pharmgkb	rs532870929
gwascentral	rs532870929
openSNP	rs532870929
23andMe	rs532870929
SNPshot	rs532870929
SNPdbe	rs532870929
MSV3d	rs532870929
GWAS Ctlg	rs532870929

Max Magnitude

0

ClinVar
Risk	rs532870929(C;C)
Alt	rs532870929(C;C)
Reference	Rs532870929(T;T)
Significance	Probable-Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8906944T>C
CLNSRC
CLNACC	RCV000169562.1,