rs121912895

Orientation

minus

Stabilized

minus

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

Make rs121912895(A;G)

Make rs121912895(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47978320

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912895
dbSNP (classic)	rs121912895
ClinGen	rs121912895
ebi	rs121912895
HLI	rs121912895
Exac	rs121912895
Gnomad	rs121912895
Varsome	rs121912895
LitVar	rs121912895
Map	rs121912895
PheGenI	rs121912895
Biobank	rs121912895
1000 genomes	rs121912895
hgdp	rs121912895
ensembl	rs121912895
geneview	rs121912895
scholar	rs121912895
google	rs121912895
pharmgkb	rs121912895
gwascentral	rs121912895
openSNP	rs121912895
23andMe	rs121912895
SNPshot	rs121912895
SNPdbe	rs121912895
MSV3d	rs121912895
GWAS Ctlg	rs121912895

Max Magnitude

0

OMIM	120140
Desc
Variant	0047
Related	also

ClinVar
Risk	rs121912895(G;G)
Alt	rs121912895(G;G)
Reference	Rs121912895(A;A)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia Strudwick type
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepimetaphyseal dysplasia Strudwick type
Reversed	1
HGVS	NC_000012.11:g.48372103T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018941.24,