rs398123312

Orientation

plus

Stabilized

plus

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

Make rs398123312(GC;GC)

Make rs398123312(GC;TA)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8801827

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs398123312
dbSNP (classic)	rs398123312
ClinGen	rs398123312
ebi	rs398123312
HLI	rs398123312
Exac	rs398123312
Gnomad	rs398123312
Varsome	rs398123312
LitVar	rs398123312
Map	rs398123312
PheGenI	rs398123312
Biobank	rs398123312
1000 genomes	rs398123312
hgdp	rs398123312
ensembl	rs398123312
geneview	rs398123312
scholar	rs398123312
google	rs398123312
pharmgkb	rs398123312
gwascentral	rs398123312
openSNP	rs398123312
23andMe	rs398123312
SNPshot	rs398123312
SNPdbe	rs398123312
MSV3d	rs398123312
GWAS Ctlg	rs398123312

Max Magnitude

0

ClinVar
Risk	rs398123312(GC;GC)
Alt	rs398123312(GC;GC)
Reference	Rs398123312(TA;TA)
Significance	Other
Disease	not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	PMM2
CLNDBN	not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8895684_8895685delTAinsGC
CLNSRC	HGMD
CLNACC	RCV000078599.3, RCV000169510.2,