rs121912873

Orientation

minus

Stabilized

minus

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

Make rs121912873(-;-)

Make rs121912873(-;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47977627

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912873
dbSNP (classic)	rs121912873
ClinGen	rs121912873
ebi	rs121912873
HLI	rs121912873
Exac	rs121912873
Gnomad	rs121912873
Varsome	rs121912873
LitVar	rs121912873
Map	rs121912873
PheGenI	rs121912873
Biobank	rs121912873
1000 genomes	rs121912873
hgdp	rs121912873
ensembl	rs121912873
geneview	rs121912873
scholar	rs121912873
google	rs121912873
pharmgkb	rs121912873
gwascentral	rs121912873
openSNP	rs121912873
23andMe	rs121912873
SNPshot	rs121912873
SNPdbe	rs121912873
MSV3d	rs121912873
GWAS Ctlg	rs121912873

Max Magnitude

0

OMIM	120140
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121912873(-;-)
Alt	rs121912873(-;-)
Reference	Rs121912873(T;T)
Significance	Pathogenic
Disease	Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48371410delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018909.29,