rs104894527

Orientation

plus

Stabilized

plus

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

Make rs104894527(G;T)

Make rs104894527(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8804781

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894527
dbSNP (classic)	rs104894527
ClinGen	rs104894527
ebi	rs104894527
HLI	rs104894527
Exac	rs104894527
Gnomad	rs104894527
Varsome	rs104894527
LitVar	rs104894527
Map	rs104894527
PheGenI	rs104894527
Biobank	rs104894527
1000 genomes	rs104894527
hgdp	rs104894527
ensembl	rs104894527
geneview	rs104894527
scholar	rs104894527
google	rs104894527
pharmgkb	rs104894527
gwascentral	rs104894527
openSNP	rs104894527
23andMe	rs104894527
SNPshot	rs104894527
SNPdbe	rs104894527
MSV3d	rs104894527
GWAS Ctlg	rs104894527

Max Magnitude

0

OMIM	601785
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894527(T;T)
Alt	rs104894527(T;T)
Reference	Rs104894527(G;G)
Significance	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.8898638G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008149.3,