rs121912872

Orientation

minus

Stabilized

minus

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

Make rs121912872(A;A)

Make rs121912872(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47994440

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912872
dbSNP (classic)	rs121912872
ClinGen	rs121912872
ebi	rs121912872
HLI	rs121912872
Exac	rs121912872
Gnomad	rs121912872
Varsome	rs121912872
LitVar	rs121912872
Map	rs121912872
PheGenI	rs121912872
Biobank	rs121912872
1000 genomes	rs121912872
hgdp	rs121912872
ensembl	rs121912872
geneview	rs121912872
scholar	rs121912872
google	rs121912872
pharmgkb	rs121912872
gwascentral	rs121912872
openSNP	rs121912872
23andMe	rs121912872
SNPshot	rs121912872
SNPdbe	rs121912872
MSV3d	rs121912872
GWAS Ctlg	rs121912872

Max Magnitude

0

OMIM	120140
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912872(A;A)
Alt	rs121912872(A;A)
Reference	Rs121912872(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.48388223C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018908.23,