rs104894534

Orientation

plus

Stabilized

plus

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

Make rs104894534(C;C)

Make rs104894534(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8801863

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs104894534
dbSNP (classic)	rs104894534
ClinGen	rs104894534
ebi	rs104894534
HLI	rs104894534
Exac	rs104894534
Gnomad	rs104894534
Varsome	rs104894534
LitVar	rs104894534
Map	rs104894534
PheGenI	rs104894534
Biobank	rs104894534
1000 genomes	rs104894534
hgdp	rs104894534
ensembl	rs104894534
geneview	rs104894534
scholar	rs104894534
google	rs104894534
pharmgkb	rs104894534
gwascentral	rs104894534
openSNP	rs104894534
23andMe	rs104894534
SNPshot	rs104894534
SNPdbe	rs104894534
MSV3d	rs104894534
GWAS Ctlg	rs104894534

Max Magnitude

0

OMIM	601785
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104894534(C;C)
Alt	rs104894534(C;C)
Reference	Rs104894534(T;T)
Significance	Other
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.8895720T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008164.4,