rs121909498

Orientation

minus

Stabilized

minus

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

Make rs121909498(C;C)

Make rs121909498(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

102955393

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs121909498
dbSNP (classic)	rs121909498
ClinGen	rs121909498
ebi	rs121909498
HLI	rs121909498
Exac	rs121909498
Gnomad	rs121909498
Varsome	rs121909498
LitVar	rs121909498
Map	rs121909498
PheGenI	rs121909498
Biobank	rs121909498
1000 genomes	rs121909498
hgdp	rs121909498
ensembl	rs121909498
geneview	rs121909498
scholar	rs121909498
google	rs121909498
pharmgkb	rs121909498
gwascentral	rs121909498
openSNP	rs121909498
23andMe	rs121909498
SNPshot	rs121909498
SNPdbe	rs121909498
MSV3d	rs121909498
GWAS Ctlg	rs121909498

Max Magnitude

0

OMIM	600108
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909498(C;C)
Alt	rs121909498(C;C)
Reference	Rs121909498(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.102826122A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010051.4,