rs121912866

Orientation

minus

Stabilized

minus

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

Make rs121912866(C;T)

Make rs121912866(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47978698

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912866
dbSNP (classic)	rs121912866
ClinGen	rs121912866
ebi	rs121912866
HLI	rs121912866
Exac	rs121912866
Gnomad	rs121912866
Varsome	rs121912866
LitVar	rs121912866
Map	rs121912866
PheGenI	rs121912866
Biobank	rs121912866
1000 genomes	rs121912866
hgdp	rs121912866
ensembl	rs121912866
geneview	rs121912866
scholar	rs121912866
google	rs121912866
pharmgkb	rs121912866
gwascentral	rs121912866
openSNP	rs121912866
23andMe	rs121912866
SNPshot	rs121912866
SNPdbe	rs121912866
MSV3d	rs121912866
GWAS Ctlg	rs121912866

Max Magnitude

0

OMIM	120140
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912866(T;T)
Alt	rs121912866(T;T)
Reference	Rs121912866(C;C)
Significance	Pathogenic
Disease	Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48372481G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018899.26,