rs758478717

Orientation

plus

Stabilized

plus

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

Make rs758478717(C;T)

Make rs758478717(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

35792736

Gene

NPR2

is a	snp
is	mentioned by
dbSNP	rs758478717
dbSNP (classic)	rs758478717
ClinGen	rs758478717
ebi	rs758478717
HLI	rs758478717
Exac	rs758478717
Gnomad	rs758478717
Varsome	rs758478717
LitVar	rs758478717
Map	rs758478717
PheGenI	rs758478717
Biobank	rs758478717
1000 genomes	rs758478717
hgdp	rs758478717
ensembl	rs758478717
geneview	rs758478717
scholar	rs758478717
google	rs758478717
pharmgkb	rs758478717
gwascentral	rs758478717
openSNP	rs758478717
23andMe	rs758478717
SNPshot	rs758478717
SNPdbe	rs758478717
MSV3d	rs758478717
GWAS Ctlg	rs758478717

Max Magnitude

0

ClinVar
Risk	rs758478717(T;T)
Alt	rs758478717(T;T)
Reference	Rs758478717(C;C)
Significance	Pathogenic
Disease	Short stature with nonspecific skeletal abnormalities
Variation	info
Gene	NPR2
CLNDBN	Short stature with nonspecific skeletal abnormalities
Reversed	0
HGVS	NC_000009.11:g.35792733C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000190431.3,