rs369083541

Orientation

plus

Stabilized

plus

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

Make rs369083541(A;A)

Make rs369083541(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

102955289

Gene

MMP13

is a	snp
is	mentioned by
dbSNP	rs369083541
dbSNP (classic)	rs369083541
ClinGen	rs369083541
ebi	rs369083541
HLI	rs369083541
Exac	rs369083541
Gnomad	rs369083541
Varsome	rs369083541
LitVar	rs369083541
Map	rs369083541
PheGenI	rs369083541
Biobank	rs369083541
1000 genomes	rs369083541
hgdp	rs369083541
ensembl	rs369083541
geneview	rs369083541
scholar	rs369083541
google	rs369083541
pharmgkb	rs369083541
gwascentral	rs369083541
openSNP	rs369083541
23andMe	rs369083541
SNPshot	rs369083541
SNPdbe	rs369083541
MSV3d	rs369083541
GWAS Ctlg	rs369083541

Max Magnitude

0

ClinVar
Risk	rs369083541(A;A)
Alt	rs369083541(A;A)
Reference	Rs369083541(G;G)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	MMP13
CLNDBN	Metaphyseal chondrodysplasia, Spahr type
Reversed	0
HGVS	NC_000011.9:g.102826018G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162348.4,