rs1057520708

Orientation

plus

Stabilized

plus

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

Make rs1057520708(C;T)

Make rs1057520708(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8801889

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs1057520708
dbSNP (classic)	rs1057520708
ClinGen	rs1057520708
ebi	rs1057520708
HLI	rs1057520708
Exac	rs1057520708
Gnomad	rs1057520708
Varsome	rs1057520708
LitVar	rs1057520708
Map	rs1057520708
PheGenI	rs1057520708
Biobank	rs1057520708
1000 genomes	rs1057520708
hgdp	rs1057520708
ensembl	rs1057520708
geneview	rs1057520708
scholar	rs1057520708
google	rs1057520708
pharmgkb	rs1057520708
gwascentral	rs1057520708
openSNP	rs1057520708
23andMe	rs1057520708
SNPshot	rs1057520708
SNPdbe	rs1057520708
MSV3d	rs1057520708
GWAS Ctlg	rs1057520708

Max Magnitude

0

ClinVar
Risk	rs1057520708(T;T)
Alt	rs1057520708(T;T)
Reference	Rs1057520708(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PMM2
CLNDBN	not provided
Reversed	0
HGVS	NC_000016.9:g.8895746C>T
CLNSRC
CLNACC	RCV000426961.1,