rs121912931

Orientation

minus

Stabilized

minus

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

Make rs121912931(C;T)

Make rs121912931(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

70281033

Gene

COL9A1

is a	snp
is	mentioned by
dbSNP	rs121912931
dbSNP (classic)	rs121912931
ClinGen	rs121912931
ebi	rs121912931
HLI	rs121912931
Exac	rs121912931
Gnomad	rs121912931
Varsome	rs121912931
LitVar	rs121912931
Map	rs121912931
PheGenI	rs121912931
Biobank	rs121912931
1000 genomes	rs121912931
hgdp	rs121912931
ensembl	rs121912931
geneview	rs121912931
scholar	rs121912931
google	rs121912931
pharmgkb	rs121912931
gwascentral	rs121912931
openSNP	rs121912931
23andMe	rs121912931
SNPshot	rs121912931
SNPdbe	rs121912931
MSV3d	rs121912931
GWAS Ctlg	rs121912931

Max Magnitude

0

OMIM	120210
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912931(T;T)
Alt	rs121912931(T;T)
Reference	Rs121912931(C;C)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL9A1
CLNDBN	Stickler syndrome, type 4
Reversed	1
HGVS	NC_000006.11:g.70990736G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018735.25,