rs387906824

Orientation

plus

Stabilized

plus

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

Make rs387906824(A;T)

Make rs387906824(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8806377

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs387906824
dbSNP (classic)	rs387906824
ClinGen	rs387906824
ebi	rs387906824
HLI	rs387906824
Exac	rs387906824
Gnomad	rs387906824
Varsome	rs387906824
LitVar	rs387906824
Map	rs387906824
PheGenI	rs387906824
Biobank	rs387906824
1000 genomes	rs387906824
hgdp	rs387906824
ensembl	rs387906824
geneview	rs387906824
scholar	rs387906824
google	rs387906824
pharmgkb	rs387906824
gwascentral	rs387906824
openSNP	rs387906824
23andMe	rs387906824
SNPshot	rs387906824
SNPdbe	rs387906824
MSV3d	rs387906824
GWAS Ctlg	rs387906824

Max Magnitude

0

ClinVar
Risk	rs387906824(T;T)
Alt	rs387906824(T;T)
Reference	Rs387906824(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.8900234A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023149.3,