rs80338705

Orientation

plus

Stabilized

plus

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

Make rs80338705(A;T)

Make rs80338705(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847737

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338705
dbSNP (classic)	rs80338705
ClinGen	rs80338705
ebi	rs80338705
HLI	rs80338705
Exac	rs80338705
Gnomad	rs80338705
Varsome	rs80338705
LitVar	rs80338705
Map	rs80338705
PheGenI	rs80338705
Biobank	rs80338705
1000 genomes	rs80338705
hgdp	rs80338705
ensembl	rs80338705
geneview	rs80338705
scholar	rs80338705
google	rs80338705
pharmgkb	rs80338705
gwascentral	rs80338705
openSNP	rs80338705
23andMe	rs80338705
SNPshot	rs80338705
SNPdbe	rs80338705
MSV3d	rs80338705
GWAS Ctlg	rs80338705

Max Magnitude

0

ClinVar
Risk	rs80338705(T;T)
Alt	rs80338705(T;T)
Reference	Rs80338705(A;A)
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.8941594A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020236.1,