rs28936668

Orientation

minus

Stabilized

minus

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

Make rs28936668(A;G)

Make rs28936668(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18786096

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs28936668
dbSNP (classic)	rs28936668
ClinGen	rs28936668
ebi	rs28936668
HLI	rs28936668
Exac	rs28936668
Gnomad	rs28936668
Varsome	rs28936668
LitVar	rs28936668
Map	rs28936668
PheGenI	rs28936668
Biobank	rs28936668
1000 genomes	rs28936668
hgdp	rs28936668
ensembl	rs28936668
geneview	rs28936668
scholar	rs28936668
google	rs28936668
pharmgkb	rs28936668
gwascentral	rs28936668
openSNP	rs28936668
23andMe	rs28936668
SNPshot	rs28936668
SNPdbe	rs28936668
MSV3d	rs28936668
GWAS Ctlg	rs28936668

Max Magnitude

0

OMIM	600310
Desc	EPIPHYSEAL DYSPLASIA, MULTIPLE, FAIRBANK TYPE
Variant	0009
Related	also

ClinVar
Risk	rs28936668(G;G)
Alt	rs28936668(G;G)
Reference	Rs28936668(A;A)
Significance	Pathogenic
Disease	Epiphyseal dysplasia
Variation	info
Gene	COMP
CLNDBN	Epiphyseal dysplasia, multiple, 1, severe
Reversed	1
HGVS	NC_000019.9:g.18896906T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009768.2,