rs121909500

Orientation

minus

Stabilized

minus

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

Make rs121909500(A;A)

Make rs121909500(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

102952117

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs121909500
dbSNP (classic)	rs121909500
ClinGen	rs121909500
ebi	rs121909500
HLI	rs121909500
Exac	rs121909500
Gnomad	rs121909500
Varsome	rs121909500
LitVar	rs121909500
Map	rs121909500
PheGenI	rs121909500
Biobank	rs121909500
1000 genomes	rs121909500
hgdp	rs121909500
ensembl	rs121909500
geneview	rs121909500
scholar	rs121909500
google	rs121909500
pharmgkb	rs121909500
gwascentral	rs121909500
openSNP	rs121909500
23andMe	rs121909500
SNPshot	rs121909500
SNPdbe	rs121909500
MSV3d	rs121909500
GWAS Ctlg	rs121909500

Max Magnitude

0

OMIM	600108
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909500(A;A)
Alt	rs121909500(A;A)
Reference	Rs121909500(C;C)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	MMP13
CLNDBN	Metaphyseal chondrodysplasia, Spahr type
Reversed	1
HGVS	NC_000011.9:g.102822846G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010053.5,