rs104893639

Orientation

minus

Stabilized

minus

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

Make rs104893639(A;A)

Make rs104893639(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

20003167

Gene	LOC101928222, MATN3

is a	snp
is	mentioned by
dbSNP	rs104893639
dbSNP (classic)	rs104893639
ClinGen	rs104893639
ebi	rs104893639
HLI	rs104893639
Exac	rs104893639
Gnomad	rs104893639
Varsome	rs104893639
LitVar	rs104893639
Map	rs104893639
PheGenI	rs104893639
Biobank	rs104893639
1000 genomes	rs104893639
hgdp	rs104893639
ensembl	rs104893639
geneview	rs104893639
scholar	rs104893639
google	rs104893639
pharmgkb	rs104893639
gwascentral	rs104893639
openSNP	rs104893639
23andMe	rs104893639
SNPshot	rs104893639
SNPdbe	rs104893639
MSV3d	rs104893639
GWAS Ctlg	rs104893639

Max Magnitude

0

OMIM	602109
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893639(A;A)
Alt	rs104893639(A;A)
Reference	Rs104893639(T;T)
Significance	Pathogenic
Disease	SPONDYLOEPIMETAPHYSEAL DYSPLASIA Spondyloepimetaphyseal dysplasia Matrilin-3 related
Variation	info
Gene	LOC101928222 MATN3
CLNDBN	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED Spondyloepimetaphyseal dysplasia Matrilin-3 related
Reversed	1
HGVS	NC_000002.11:g.20202928A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007980.3, RCV000055879.1,