rs28929479

Orientation

plus

Stabilized

plus

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

Make rs28929479(A;A)

Make rs28929479(A;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35792936

Gene

NPR2

is a	snp
is	mentioned by
dbSNP	rs28929479
dbSNP (classic)	rs28929479
ClinGen	rs28929479
ebi	rs28929479
HLI	rs28929479
Exac	rs28929479
Gnomad	rs28929479
Varsome	rs28929479
LitVar	rs28929479
Map	rs28929479
PheGenI	rs28929479
Biobank	rs28929479
1000 genomes	rs28929479
hgdp	rs28929479
ensembl	rs28929479
geneview	rs28929479
scholar	rs28929479
google	rs28929479
pharmgkb	rs28929479
gwascentral	rs28929479
openSNP	rs28929479
23andMe	rs28929479
SNPshot	rs28929479
SNPdbe	rs28929479
MSV3d	rs28929479
GWAS Ctlg	rs28929479

Max Magnitude

0

OMIM	108961
Desc	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant	0003
Related	also

ClinVar
Risk	rs28929479(A;A)
Alt	rs28929479(A;A)
Reference	Rs28929479(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.35792933T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019364.30,