rs78290141

Orientation

plus

Stabilized

plus

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

Make rs78290141(A;T)

Make rs78290141(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847731

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs78290141
dbSNP (classic)	rs78290141
ClinGen	rs78290141
ebi	rs78290141
HLI	rs78290141
Exac	rs78290141
Gnomad	rs78290141
Varsome	rs78290141
LitVar	rs78290141
Map	rs78290141
PheGenI	rs78290141
Biobank	rs78290141
1000 genomes	rs78290141
hgdp	rs78290141
ensembl	rs78290141
geneview	rs78290141
scholar	rs78290141
google	rs78290141
pharmgkb	rs78290141
gwascentral	rs78290141
openSNP	rs78290141
23andMe	rs78290141
SNPshot	rs78290141
SNPdbe	rs78290141
MSV3d	rs78290141
GWAS Ctlg	rs78290141

GMAF

0.0004591

Max Magnitude

0

OMIM	601785
Desc
Variant	0002
Related	also

ClinVar
Risk	rs78290141(G;G) rs78290141(T;T)
Alt	rs78290141(G;G) rs78290141(T;T)
Reference	Rs78290141(A;A)
Significance	Pathogenic
Disease	not specified not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	not specified not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8941588A>G; NC_000016.9:g.8941588A>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000180131.1, RCV000485565.1, RCV000008146.4,