rs104893645

Orientation

minus

Stabilized

minus

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

Make rs104893645(A;A)

Make rs104893645(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

20005953

Gene

MATN3

is a	snp
is	mentioned by
dbSNP	rs104893645
dbSNP (classic)	rs104893645
ClinGen	rs104893645
ebi	rs104893645
HLI	rs104893645
Exac	rs104893645
Gnomad	rs104893645
Varsome	rs104893645
LitVar	rs104893645
Map	rs104893645
PheGenI	rs104893645
Biobank	rs104893645
1000 genomes	rs104893645
hgdp	rs104893645
ensembl	rs104893645
geneview	rs104893645
scholar	rs104893645
google	rs104893645
pharmgkb	rs104893645
gwascentral	rs104893645
openSNP	rs104893645
23andMe	rs104893645
SNPshot	rs104893645
SNPdbe	rs104893645
MSV3d	rs104893645
GWAS Ctlg	rs104893645

Max Magnitude

0

OMIM	602109
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893645(A;A)
Alt	rs104893645(A;A)
Reference	Rs104893645(T;T)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 5
Variation	info
Gene	MATN3
CLNDBN	Multiple epiphyseal dysplasia 5
Reversed	1
HGVS	NC_000002.11:g.20205714A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007976.3,