rs312262897

Orientation

minus

Stabilized

minus

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

Make rs312262897(-;-)

Make rs312262897(-;GAC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18786035

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs312262897
dbSNP (classic)	rs312262897
ClinGen	rs312262897
ebi	rs312262897
HLI	rs312262897
Exac	rs312262897
Gnomad	rs312262897
Varsome	rs312262897
LitVar	rs312262897
Map	rs312262897
PheGenI	rs312262897
Biobank	rs312262897
1000 genomes	rs312262897
hgdp	rs312262897
ensembl	rs312262897
geneview	rs312262897
scholar	rs312262897
google	rs312262897
pharmgkb	rs312262897
gwascentral	rs312262897
openSNP	rs312262897
23andMe	rs312262897
SNPshot	rs312262897
SNPdbe	rs312262897
MSV3d	rs312262897
GWAS Ctlg	rs312262897

Max Magnitude

0

ClinVar
Risk	rs312262897(-;-)
Alt	rs312262897(-;-)
Reference	Rs312262897(GAC;GAC)
Significance	Pathogenic
Disease	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome not provided
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome not provided
Reversed	1
HGVS	NC_000019.9:g.18896845_18896847delGTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033880.1, RCV000486037.1,