rs587776847

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0	common in clinvar
(GT;GT)	0	common in clinvar
(I;I)	0	common genotype

Make rs587776847(-;-)

Make rs587776847(-;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

47987268

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs587776847
dbSNP (classic)	rs587776847
ClinGen	rs587776847
ebi	rs587776847
HLI	rs587776847
Exac	rs587776847
Gnomad	rs587776847
Varsome	rs587776847
LitVar	rs587776847
Map	rs587776847
PheGenI	rs587776847
Biobank	rs587776847
1000 genomes	rs587776847
hgdp	rs587776847
ensembl	rs587776847
geneview	rs587776847
scholar	rs587776847
google	rs587776847
pharmgkb	rs587776847
gwascentral	rs587776847
openSNP	rs587776847
23andMe	rs587776847
SNPshot	rs587776847
SNPdbe	rs587776847
MSV3d	rs587776847
GWAS Ctlg	rs587776847

Max Magnitude

0

ClinVar
Risk	Rs587776847(C;C) rs587776847(-;-)
Alt	Rs587776847(C;C) rs587776847(-;-)
Reference	Rs587776847(G;G)
Significance	Pathogenic
Disease	Kniest dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Kniest dysplasia
Reversed	1
HGVS	NC_000012.11:g.48381051delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018918.28,