rs121912896

Orientation

minus

Stabilized

minus

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

Make rs121912896(A;A)

Make rs121912896(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48000070

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912896
dbSNP (classic)	rs121912896
ClinGen	rs121912896
ebi	rs121912896
HLI	rs121912896
Exac	rs121912896
Gnomad	rs121912896
Varsome	rs121912896
LitVar	rs121912896
Map	rs121912896
PheGenI	rs121912896
Biobank	rs121912896
1000 genomes	rs121912896
hgdp	rs121912896
ensembl	rs121912896
geneview	rs121912896
scholar	rs121912896
google	rs121912896
pharmgkb	rs121912896
gwascentral	rs121912896
openSNP	rs121912896
23andMe	rs121912896
SNPshot	rs121912896
SNPdbe	rs121912896
MSV3d	rs121912896
GWAS Ctlg	rs121912896

Max Magnitude

0

OMIM	120140
Desc
Variant	0050
Related	also

ClinVar
Risk	rs121912896(A;A)
Alt	rs121912896(A;A)
Reference	Rs121912896(G;G)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome, type I, nonsyndromic ocular
Reversed	1
HGVS	NC_000012.11:g.48393853C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018944.27,