rs28936669

Orientation

minus

Stabilized

minus

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

Make rs28936669(A;G)

Make rs28936669(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18786036

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs28936669
dbSNP (classic)	rs28936669
ClinGen	rs28936669
ebi	rs28936669
HLI	rs28936669
Exac	rs28936669
Gnomad	rs28936669
Varsome	rs28936669
LitVar	rs28936669
Map	rs28936669
PheGenI	rs28936669
Biobank	rs28936669
1000 genomes	rs28936669
hgdp	rs28936669
ensembl	rs28936669
geneview	rs28936669
scholar	rs28936669
google	rs28936669
pharmgkb	rs28936669
gwascentral	rs28936669
openSNP	rs28936669
23andMe	rs28936669
SNPshot	rs28936669
SNPdbe	rs28936669
MSV3d	rs28936669
GWAS Ctlg	rs28936669

Max Magnitude

0

OMIM	600310
Desc	PSEUDOACHONDROAPLASIA
Variant	0010
Related	also

ClinVar
Risk	rs28936669(G;G)
Alt	rs28936669(G;G)
Reference	Rs28936669(A;A)
Significance	Pathogenic
Disease	Pseudoachondroaplasia
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroaplasia
Reversed	1
HGVS	NC_000019.9:g.18896846T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009769.4,