rs140059558

Orientation

plus

Stabilized

plus

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

Make rs140059558(A;C)

Make rs140059558(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

102954174

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs140059558
dbSNP (classic)	rs140059558
ClinGen	rs140059558
ebi	rs140059558
HLI	rs140059558
Exac	rs140059558
Gnomad	rs140059558
Varsome	rs140059558
LitVar	rs140059558
Map	rs140059558
PheGenI	rs140059558
Biobank	rs140059558
1000 genomes	rs140059558
hgdp	rs140059558
ensembl	rs140059558
geneview	rs140059558
scholar	rs140059558
google	rs140059558
pharmgkb	rs140059558
gwascentral	rs140059558
openSNP	rs140059558
23andMe	rs140059558
SNPshot	rs140059558
SNPdbe	rs140059558
MSV3d	rs140059558
GWAS Ctlg	rs140059558

Max Magnitude

0

ClinVar
Risk	rs140059558(C;C) rs140059558(G;G)
Alt	rs140059558(C;C) rs140059558(G;G)
Reference	Rs140059558(A;A)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia not specified
Variation	info
Gene	MMP13
CLNDBN	Metaphyseal chondrodysplasia, Spahr type not specified
Reversed	0
HGVS	NC_000011.9:g.102824903A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000162347.4, RCV000303456.1,