rs121912890

Orientation

minus

Stabilized

minus

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

Make rs121912890(A;A)

Make rs121912890(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47974092

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912890
dbSNP (classic)	rs121912890
ClinGen	rs121912890
ebi	rs121912890
HLI	rs121912890
Exac	rs121912890
Gnomad	rs121912890
Varsome	rs121912890
LitVar	rs121912890
Map	rs121912890
PheGenI	rs121912890
Biobank	rs121912890
1000 genomes	rs121912890
hgdp	rs121912890
ensembl	rs121912890
geneview	rs121912890
scholar	rs121912890
google	rs121912890
pharmgkb	rs121912890
gwascentral	rs121912890
openSNP	rs121912890
23andMe	rs121912890
SNPshot	rs121912890
SNPdbe	rs121912890
MSV3d	rs121912890
GWAS Ctlg	rs121912890

Max Magnitude

0

OMIM	120140
Desc
Variant	0042
Related	also

ClinVar
Risk	rs121912890(A;A)
Alt	rs121912890(A;A)
Reference	Rs121912890(C;C)
Significance	Pathogenic
Disease	Spondyloperipheral dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Spondyloperipheral dysplasia
Reversed	1
HGVS	NC_000012.11:g.48367875G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018934.28,