rs121912943

Orientation

minus

Stabilized

minus

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

Make rs121912943(G;T)

Make rs121912943(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

103004633

Gene

COL11A1

is a	snp
is	mentioned by
dbSNP	rs121912943
dbSNP (classic)	rs121912943
ClinGen	rs121912943
ebi	rs121912943
HLI	rs121912943
Exac	rs121912943
Gnomad	rs121912943
Varsome	rs121912943
LitVar	rs121912943
Map	rs121912943
PheGenI	rs121912943
Biobank	rs121912943
1000 genomes	rs121912943
hgdp	rs121912943
ensembl	rs121912943
geneview	rs121912943
scholar	rs121912943
google	rs121912943
pharmgkb	rs121912943
gwascentral	rs121912943
openSNP	rs121912943
23andMe	rs121912943
SNPshot	rs121912943
SNPdbe	rs121912943
MSV3d	rs121912943
GWAS Ctlg	rs121912943

Max Magnitude

0

OMIM	120280
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912943(T;T)
Alt	rs121912943(T;T)
Reference	Rs121912943(G;G)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL11A1
CLNDBN	Stickler syndrome, type 2
Reversed	1
HGVS	NC_000001.10:g.103470189C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018669.28,