rs121909499

Orientation

minus

Stabilized

minus

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

Make rs121909499(C;C)

Make rs121909499(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

102955342

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs121909499
dbSNP (classic)	rs121909499
ClinGen	rs121909499
ebi	rs121909499
HLI	rs121909499
Exac	rs121909499
Gnomad	rs121909499
Varsome	rs121909499
LitVar	rs121909499
Map	rs121909499
PheGenI	rs121909499
Biobank	rs121909499
1000 genomes	rs121909499
hgdp	rs121909499
ensembl	rs121909499
geneview	rs121909499
scholar	rs121909499
google	rs121909499
pharmgkb	rs121909499
gwascentral	rs121909499
openSNP	rs121909499
23andMe	rs121909499
SNPshot	rs121909499
SNPdbe	rs121909499
MSV3d	rs121909499
GWAS Ctlg	rs121909499

Max Magnitude

0

OMIM	600108
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909499(C;C)
Alt	rs121909499(C;C)
Reference	Rs121909499(T;T)
Significance	Pathogenic
Disease	Metaphyseal anadysplasia 1
Variation	info
Gene	MMP13
CLNDBN	Metaphyseal anadysplasia 1, autosomal dominant
Reversed	1
HGVS	NC_000011.9:g.102826071A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010052.4,