rs869312907

Orientation

minus

Stabilized

minus

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

Make rs869312907(A;A)

Make rs869312907(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

47995910

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs869312907
dbSNP (classic)	rs869312907
ClinGen	rs869312907
ebi	rs869312907
HLI	rs869312907
Exac	rs869312907
Gnomad	rs869312907
Varsome	rs869312907
LitVar	rs869312907
Map	rs869312907
PheGenI	rs869312907
Biobank	rs869312907
1000 genomes	rs869312907
hgdp	rs869312907
ensembl	rs869312907
geneview	rs869312907
scholar	rs869312907
google	rs869312907
pharmgkb	rs869312907
gwascentral	rs869312907
openSNP	rs869312907
23andMe	rs869312907
SNPshot	rs869312907
SNPdbe	rs869312907
MSV3d	rs869312907
GWAS Ctlg	rs869312907

Max Magnitude

0

ClinVar
Risk	rs869312907(A;A)
Alt	rs869312907(A;A)
Reference	Rs869312907(G;G)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepiphyseal dysplasia, stanescu type
Reversed	1
HGVS	NC_000012.11:g.48389693C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210454.3,