rs121912869

Orientation

minus

Stabilized

minus

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

Make rs121912869(C;T)

Make rs121912869(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47995904

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912869
dbSNP (classic)	rs121912869
ClinGen	rs121912869
ebi	rs121912869
HLI	rs121912869
Exac	rs121912869
Gnomad	rs121912869
Varsome	rs121912869
LitVar	rs121912869
Map	rs121912869
PheGenI	rs121912869
Biobank	rs121912869
1000 genomes	rs121912869
hgdp	rs121912869
ensembl	rs121912869
geneview	rs121912869
scholar	rs121912869
google	rs121912869
pharmgkb	rs121912869
gwascentral	rs121912869
openSNP	rs121912869
23andMe	rs121912869
SNPshot	rs121912869
SNPdbe	rs121912869
MSV3d	rs121912869
GWAS Ctlg	rs121912869

Max Magnitude

0

OMIM	120140
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912869(T;T)
Alt	rs121912869(T;T)
Reference	Rs121912869(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.48389687G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018904.28,