rs28939677

Orientation

minus

Stabilized

minus

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

Make rs28939677(A;A)

Make rs28939677(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

20005878

Gene

MATN3

is a	snp
is	mentioned by
dbSNP	rs28939677
dbSNP (classic)	rs28939677
ClinGen	rs28939677
ebi	rs28939677
HLI	rs28939677
Exac	rs28939677
Gnomad	rs28939677
Varsome	rs28939677
LitVar	rs28939677
Map	rs28939677
PheGenI	rs28939677
Biobank	rs28939677
1000 genomes	rs28939677
hgdp	rs28939677
ensembl	rs28939677
geneview	rs28939677
scholar	rs28939677
google	rs28939677
pharmgkb	rs28939677
gwascentral	rs28939677
openSNP	rs28939677
23andMe	rs28939677
SNPshot	rs28939677
SNPdbe	rs28939677
MSV3d	rs28939677
GWAS Ctlg	rs28939677

Max Magnitude

0

OMIM	602109
Desc	MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED
Variant	0004
Related	also

ClinVar
Risk	rs28939677(A;A)
Alt	rs28939677(A;A)
Reference	Rs28939677(C;C)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 5
Variation	info
Gene	MATN3
CLNDBN	Multiple epiphyseal dysplasia 5
Reversed	1
HGVS	NC_000002.11:g.20205639G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007979.3,