rs121912884

Orientation

minus

Stabilized

minus

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

Make rs121912884(C;T)

Make rs121912884(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47985575

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912884
dbSNP (classic)	rs121912884
ClinGen	rs121912884
ebi	rs121912884
HLI	rs121912884
Exac	rs121912884
Gnomad	rs121912884
Varsome	rs121912884
LitVar	rs121912884
Map	rs121912884
PheGenI	rs121912884
Biobank	rs121912884
1000 genomes	rs121912884
hgdp	rs121912884
ensembl	rs121912884
geneview	rs121912884
scholar	rs121912884
google	rs121912884
pharmgkb	rs121912884
gwascentral	rs121912884
openSNP	rs121912884
23andMe	rs121912884
SNPshot	rs121912884
SNPdbe	rs121912884
MSV3d	rs121912884
GWAS Ctlg	rs121912884

Max Magnitude

0

OMIM	120140
Desc
Variant	0033
Related	also

ClinVar
Risk	rs121912884(T;T)
Alt	rs121912884(T;T)
Reference	Rs121912884(C;C)
Significance	Pathogenic
Disease	Stickler syndrome type 1 not provided
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1 not provided
Reversed	1
HGVS	NC_000012.11:g.48379358G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018926.29, RCV000413561.1,