rs28936368

Orientation

minus

Stabilized

minus

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

Make rs28936368(C;T)

Make rs28936368(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18783129

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs28936368
dbSNP (classic)	rs28936368
ClinGen	rs28936368
ebi	rs28936368
HLI	rs28936368
Exac	rs28936368
Gnomad	rs28936368
Varsome	rs28936368
LitVar	rs28936368
Map	rs28936368
PheGenI	rs28936368
Biobank	rs28936368
1000 genomes	rs28936368
hgdp	rs28936368
ensembl	rs28936368
geneview	rs28936368
scholar	rs28936368
google	rs28936368
pharmgkb	rs28936368
gwascentral	rs28936368
openSNP	rs28936368
23andMe	rs28936368
SNPshot	rs28936368
SNPdbe	rs28936368
MSV3d	rs28936368
GWAS Ctlg	rs28936368

GMAF

0.001837

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	600310
Desc	EPIPHYSEAL DYSPLASIA, MULTIPLE, FAIRBANK TYPE
Variant	0017
Related	also

ClinVar
Risk	rs28936368(A;A) rs28936368(T;T)
Alt	rs28936368(A;A) rs28936368(T;T)
Reference	Rs28936368(C;C)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Multiple epiphyseal dysplasia 1
Reversed	1
HGVS	NC_000019.9:g.18893939G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009776.2,