rs1060499598

Orientation

plus

Stabilized

plus

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

Make rs1060499598(A;A)

Make rs1060499598(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8804844

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1060499598
dbSNP (classic)	rs1060499598
ClinGen	rs1060499598
ebi	rs1060499598
HLI	rs1060499598
Exac	rs1060499598
Gnomad	rs1060499598
Varsome	rs1060499598
LitVar	rs1060499598
Map	rs1060499598
PheGenI	rs1060499598
Biobank	rs1060499598
1000 genomes	rs1060499598
hgdp	rs1060499598
ensembl	rs1060499598
geneview	rs1060499598
scholar	rs1060499598
google	rs1060499598
pharmgkb	rs1060499598
gwascentral	rs1060499598
openSNP	rs1060499598
23andMe	rs1060499598
SNPshot	rs1060499598
SNPdbe	rs1060499598
MSV3d	rs1060499598
GWAS Ctlg	rs1060499598

Max Magnitude

0

ClinVar
Risk	rs1060499598(A;A)
Alt	rs1060499598(A;A)
Reference	Rs1060499598(G;G)
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.8898701G>A
CLNSRC
CLNACC	RCV000477824.1,