Rs104894527

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894527
PheGenI	rs104894527
nextbio	rs104894527
hapmap	rs104894527
1000 genomes	rs104894527
hgdp	rs104894527
ensembl	rs104894527
gopubmed	rs104894527
geneview	rs104894527
scholar	rs104894527
google	rs104894527
pharmgkb	rs104894527
gwascentral	rs104894527
openSNP	rs104894527
23andMe	rs104894527
23andMe all	rs104894527
SNP Nexus
SNPshot	rs104894527
SNPdbe	rs104894527
MSV3d	rs104894527

Gene

PMM2

Chromosome

16

Orientation

plus

Position

8898638

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104894527(G;T)

Make rs104894527(T;T)

OMIM	601785
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894527(T;T)
Normal	rs104894527(G;G)
Significance	5
Disease	Carbohydrate-deficient glycoprotein syndrome type I
ClinVar	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
CLNHGVS	NC_000016.9:g.8898638G>T
CLNSRC	OMIM Allelic Variant