rs104893641

Orientation

minus

Stabilized

minus

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

Make rs104893641(C;C)

Make rs104893641(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

20006152

Gene

MATN3

is a	snp
is	mentioned by
dbSNP	rs104893641
dbSNP (classic)	rs104893641
ClinGen	rs104893641
ebi	rs104893641
HLI	rs104893641
Exac	rs104893641
Gnomad	rs104893641
Varsome	rs104893641
LitVar	rs104893641
Map	rs104893641
PheGenI	rs104893641
Biobank	rs104893641
1000 genomes	rs104893641
hgdp	rs104893641
ensembl	rs104893641
geneview	rs104893641
scholar	rs104893641
google	rs104893641
pharmgkb	rs104893641
gwascentral	rs104893641
openSNP	rs104893641
23andMe	rs104893641
SNPshot	rs104893641
SNPdbe	rs104893641
MSV3d	rs104893641
GWAS Ctlg	rs104893641

Max Magnitude

0

OMIM	602109
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893641(C;C)
Alt	rs104893641(C;C)
Reference	Rs104893641(G;G)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 5
Variation	info
Gene	MATN3
CLNDBN	Multiple epiphyseal dysplasia 5
Reversed	1
HGVS	NC_000002.11:g.20205913C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007982.4,