rs765433263

Orientation

plus

Stabilized

plus

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

Make rs765433263(C;T)

Make rs765433263(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8806397

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs765433263
dbSNP (classic)	rs765433263
ClinGen	rs765433263
ebi	rs765433263
HLI	rs765433263
Exac	rs765433263
Gnomad	rs765433263
Varsome	rs765433263
LitVar	rs765433263
Map	rs765433263
PheGenI	rs765433263
Biobank	rs765433263
1000 genomes	rs765433263
hgdp	rs765433263
ensembl	rs765433263
geneview	rs765433263
scholar	rs765433263
google	rs765433263
pharmgkb	rs765433263
gwascentral	rs765433263
openSNP	rs765433263
23andMe	rs765433263
SNPshot	rs765433263
SNPdbe	rs765433263
MSV3d	rs765433263
GWAS Ctlg	rs765433263

Max Magnitude

0

ClinVar
Risk	rs765433263(A;A) rs765433263(T;T)
Alt	rs765433263(A;A) rs765433263(T;T)
Reference	Rs765433263(C;C)
Significance	Probable-Pathogenic
Disease	not provided not specified
Variation	info
Gene	PMM2
CLNDBN	not provided not specified
Reversed	0
HGVS	NC_000016.9:g.8900254C>A; NC_000016.9:g.8900254C>T
CLNSRC
CLNACC	RCV000482436.1, RCV000178071.1,