rs121912871

Orientation

minus

Stabilized

minus

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

Make rs121912871(A;A)

Make rs121912871(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47989769

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912871
dbSNP (classic)	rs121912871
ClinGen	rs121912871
ebi	rs121912871
HLI	rs121912871
Exac	rs121912871
Gnomad	rs121912871
Varsome	rs121912871
LitVar	rs121912871
Map	rs121912871
PheGenI	rs121912871
Biobank	rs121912871
1000 genomes	rs121912871
hgdp	rs121912871
ensembl	rs121912871
geneview	rs121912871
scholar	rs121912871
google	rs121912871
pharmgkb	rs121912871
gwascentral	rs121912871
openSNP	rs121912871
23andMe	rs121912871
SNPshot	rs121912871
SNPdbe	rs121912871
MSV3d	rs121912871
GWAS Ctlg	rs121912871

Max Magnitude

0

OMIM	120140
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912871(A;A)
Alt	rs121912871(A;A)
Reference	Rs121912871(G;G)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia Strudwick type
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepimetaphyseal dysplasia Strudwick type
Reversed	1
HGVS	NC_000012.11:g.48383552C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018907.27,