rs121909497

Orientation

minus

Stabilized

minus

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

Make rs121909497(C;C)

Make rs121909497(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

102955390

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs121909497
dbSNP (classic)	rs121909497
ClinGen	rs121909497
ebi	rs121909497
HLI	rs121909497
Exac	rs121909497
Gnomad	rs121909497
Varsome	rs121909497
LitVar	rs121909497
Map	rs121909497
PheGenI	rs121909497
Biobank	rs121909497
1000 genomes	rs121909497
hgdp	rs121909497
ensembl	rs121909497
geneview	rs121909497
scholar	rs121909497
google	rs121909497
pharmgkb	rs121909497
gwascentral	rs121909497
openSNP	rs121909497
23andMe	rs121909497
SNPshot	rs121909497
SNPdbe	rs121909497
MSV3d	rs121909497
GWAS Ctlg	rs121909497

Max Magnitude

0

OMIM	600108
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909497(C;C)
Alt	rs121909497(C;C)
Reference	Rs121909497(T;T)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	MMP13
CLNDBN	Spondyloepimetaphyseal dysplasia, Missouri type
Reversed	1
HGVS	NC_000011.9:g.102826119A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010050.2,