rs672601354

Orientation

minus

Stabilized

minus

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

Make rs672601354(-;CT)

Make rs672601354(CT;CT)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

47976889

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs672601354
dbSNP (classic)	rs672601354
ClinGen	rs672601354
ebi	rs672601354
HLI	rs672601354
Exac	rs672601354
Gnomad	rs672601354
Varsome	rs672601354
LitVar	rs672601354
Map	rs672601354
PheGenI	rs672601354
Biobank	rs672601354
1000 genomes	rs672601354
hgdp	rs672601354
ensembl	rs672601354
geneview	rs672601354
scholar	rs672601354
google	rs672601354
pharmgkb	rs672601354
gwascentral	rs672601354
openSNP	rs672601354
23andMe	rs672601354
SNPshot	rs672601354
SNPdbe	rs672601354
MSV3d	rs672601354
GWAS Ctlg	rs672601354

Max Magnitude

0

ClinVar
Risk	rs672601354(CT;CT)
Alt	rs672601354(CT;CT)
Reference	Rs672601354(-;-)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome
Reversed	1
HGVS	NC_000012.11:g.48370672_48370673insAG
CLNSRC
CLNACC	RCV000149457.1,