rs104893640

Orientation

minus

Stabilized

minus

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

Make rs104893640(A;A)

Make rs104893640(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

20012423

Gene

MATN3

is a	snp
is	mentioned by
dbSNP	rs104893640
dbSNP (classic)	rs104893640
ClinGen	rs104893640
ebi	rs104893640
HLI	rs104893640
Exac	rs104893640
Gnomad	rs104893640
Varsome	rs104893640
LitVar	rs104893640
Map	rs104893640
PheGenI	rs104893640
Biobank	rs104893640
1000 genomes	rs104893640
hgdp	rs104893640
ensembl	rs104893640
geneview	rs104893640
scholar	rs104893640
google	rs104893640
pharmgkb	rs104893640
gwascentral	rs104893640
openSNP	rs104893640
23andMe	rs104893640
SNPshot	rs104893640
SNPdbe	rs104893640
MSV3d	rs104893640
GWAS Ctlg	rs104893640

Max Magnitude

0

OMIM	602109
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893640(A;A)
Alt	rs104893640(A;A)
Reference	Rs104893640(G;G)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 5 Multiple Epiphyseal Dysplasia
Variation	info
Gene	MATN3
CLNDBN	Multiple epiphyseal dysplasia 5 Multiple Epiphyseal Dysplasia, Dominant
Reversed	1
HGVS	NC_000002.11:g.20212184C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007981.3, RCV000055877.1,