rs606231376

Orientation

minus

Stabilized

minus

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

Make rs606231376(-;-)

Make rs606231376(-;CGAGGTGA)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

40309934

Gene

COL9A2

is a	snp
is	mentioned by
dbSNP	rs606231376
dbSNP (classic)	rs606231376
ClinGen	rs606231376
ebi	rs606231376
HLI	rs606231376
Exac	rs606231376
Gnomad	rs606231376
Varsome	rs606231376
LitVar	rs606231376
Map	rs606231376
PheGenI	rs606231376
Biobank	rs606231376
1000 genomes	rs606231376
hgdp	rs606231376
ensembl	rs606231376
geneview	rs606231376
scholar	rs606231376
google	rs606231376
pharmgkb	rs606231376
gwascentral	rs606231376
openSNP	rs606231376
23andMe	rs606231376
SNPshot	rs606231376
SNPdbe	rs606231376
MSV3d	rs606231376
GWAS Ctlg	rs606231376

Max Magnitude

0

ClinVar
Risk	rs606231376(-;-)
Alt	rs606231376(-;-)
Reference	Rs606231376(CGAGGTGA;CGAGGTGA)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL9A2
CLNDBN	Stickler syndrome, type 5
Reversed	1
HGVS	NC_000001.10:g.40775606_40775613delTCACCTCG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022493.26,