rs121912877

Orientation

minus

Stabilized

minus

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

Make rs121912877(A;A)

Make rs121912877(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47993825

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912877
dbSNP (classic)	rs121912877
ClinGen	rs121912877
ebi	rs121912877
HLI	rs121912877
Exac	rs121912877
Gnomad	rs121912877
Varsome	rs121912877
LitVar	rs121912877
Map	rs121912877
PheGenI	rs121912877
Biobank	rs121912877
1000 genomes	rs121912877
hgdp	rs121912877
ensembl	rs121912877
geneview	rs121912877
scholar	rs121912877
google	rs121912877
pharmgkb	rs121912877
gwascentral	rs121912877
openSNP	rs121912877
23andMe	rs121912877
SNPshot	rs121912877
SNPdbe	rs121912877
MSV3d	rs121912877
GWAS Ctlg	rs121912877

Max Magnitude

0

OMIM	120140
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121912877(A;A)
Alt	rs121912877(A;A)
Reference	Rs121912877(G;G)
Significance	Pathogenic
Disease	Kniest dysplasia Stickler syndrome type 1
Variation	info
Gene	COL2A1
CLNDBN	Kniest dysplasia Stickler syndrome type 1
Reversed	1
HGVS	NC_000012.11:g.48387608C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018914.27, RCV000174720.1,