rs1057519333

Orientation

plus

Stabilized

plus

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

Make rs1057519333(C;C)

Make rs1057519333(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

35806163

Gene

NPR2

is a	snp
is	mentioned by
dbSNP	rs1057519333
dbSNP (classic)	rs1057519333
ClinGen	rs1057519333
ebi	rs1057519333
HLI	rs1057519333
Exac	rs1057519333
Gnomad	rs1057519333
Varsome	rs1057519333
LitVar	rs1057519333
Map	rs1057519333
PheGenI	rs1057519333
Biobank	rs1057519333
1000 genomes	rs1057519333
hgdp	rs1057519333
ensembl	rs1057519333
geneview	rs1057519333
scholar	rs1057519333
google	rs1057519333
pharmgkb	rs1057519333
gwascentral	rs1057519333
openSNP	rs1057519333
23andMe	rs1057519333
SNPshot	rs1057519333
SNPdbe	rs1057519333
MSV3d	rs1057519333
GWAS Ctlg	rs1057519333

Max Magnitude

0

ClinVar
Risk	rs1057519333(C;C)
Alt	rs1057519333(C;C)
Reference	Rs1057519333(T;T)
Significance	Pathogenic
Disease	Acromesomelic dysplasia Maroteaux type
Variation	info
Gene	NPR2
CLNDBN	Acromesomelic dysplasia Maroteaux type
Reversed	0
HGVS	NC_000009.11:g.35806160T>C
CLNSRC
CLNACC	RCV000416364.1,