rs150719105

Orientation

plus

Stabilized

plus

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

Make rs150719105(C;C)

Make rs150719105(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8811161

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs150719105
dbSNP (classic)	rs150719105
ClinGen	rs150719105
ebi	rs150719105
HLI	rs150719105
Exac	rs150719105
Gnomad	rs150719105
Varsome	rs150719105
LitVar	rs150719105
Map	rs150719105
PheGenI	rs150719105
Biobank	rs150719105
1000 genomes	rs150719105
hgdp	rs150719105
ensembl	rs150719105
geneview	rs150719105
scholar	rs150719105
google	rs150719105
pharmgkb	rs150719105
gwascentral	rs150719105
openSNP	rs150719105
23andMe	rs150719105
SNPshot	rs150719105
SNPdbe	rs150719105
MSV3d	rs150719105
GWAS Ctlg	rs150719105

Max Magnitude

0

ClinVar
Risk	rs150719105(C;C)
Alt	rs150719105(C;C)
Reference	Rs150719105(T;T)
Significance	Probable-Pathogenic
Disease	not specified not provided
Variation	info
Gene	PMM2
CLNDBN	not specified not provided
Reversed	0
HGVS	NC_000016.9:g.8905018T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178753.1, RCV000414479.1,