rs150577656

Orientation

plus

Stabilized

plus

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

Make rs150577656(C;C)

Make rs150577656(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8811648

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs150577656
dbSNP (classic)	rs150577656
ClinGen	rs150577656
ebi	rs150577656
HLI	rs150577656
Exac	rs150577656
Gnomad	rs150577656
Varsome	rs150577656
LitVar	rs150577656
Map	rs150577656
PheGenI	rs150577656
Biobank	rs150577656
1000 genomes	rs150577656
hgdp	rs150577656
ensembl	rs150577656
geneview	rs150577656
scholar	rs150577656
google	rs150577656
pharmgkb	rs150577656
gwascentral	rs150577656
openSNP	rs150577656
23andMe	rs150577656
SNPshot	rs150577656
SNPdbe	rs150577656
MSV3d	rs150577656
GWAS Ctlg	rs150577656

Max Magnitude

0

ClinVar
Risk	rs150577656(C;C)
Alt	rs150577656(C;C)
Reference	Rs150577656(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.8905505T>C
CLNSRC
CLNACC	RCV000409634.1,