rs28931581

Orientation

plus

Stabilized

plus

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

Make rs28931581(A;A)

Make rs28931581(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35792502

Gene

NPR2

is a	snp
is	mentioned by
dbSNP	rs28931581
dbSNP (classic)	rs28931581
ClinGen	rs28931581
ebi	rs28931581
HLI	rs28931581
Exac	rs28931581
Gnomad	rs28931581
Varsome	rs28931581
LitVar	rs28931581
Map	rs28931581
PheGenI	rs28931581
Biobank	rs28931581
1000 genomes	rs28931581
hgdp	rs28931581
ensembl	rs28931581
geneview	rs28931581
scholar	rs28931581
google	rs28931581
pharmgkb	rs28931581
gwascentral	rs28931581
openSNP	rs28931581
23andMe	rs28931581
SNPshot	rs28931581
SNPdbe	rs28931581
MSV3d	rs28931581
GWAS Ctlg	rs28931581

Max Magnitude

0

OMIM	108961
Desc	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Variant	0001
Related	also

ClinVar
Risk	rs28931581(A;A)
Alt	rs28931581(A;A)
Reference	Rs28931581(C;C)
Significance	Pathogenic
Disease	Acromesomelic dysplasia Maroteaux type
Variation	info
Gene	NPR2
CLNDBN	Acromesomelic dysplasia Maroteaux type
Reversed	0
HGVS	NC_000009.11:g.35792499C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019362.24,