rs189754995

Orientation

plus

Stabilized

plus

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

Make rs189754995(G;T)

Make rs189754995(T;T)

Reference

GRCh38 38.1/142

Chromosome

6

Position

70255375

Gene

COL9A1

is a	snp
is	mentioned by
dbSNP	rs189754995
dbSNP (classic)	rs189754995
ClinGen	rs189754995
ebi	rs189754995
HLI	rs189754995
Exac	rs189754995
Gnomad	rs189754995
Varsome	rs189754995
LitVar	rs189754995
Map	rs189754995
PheGenI	rs189754995
Biobank	rs189754995
1000 genomes	rs189754995
hgdp	rs189754995
ensembl	rs189754995
geneview	rs189754995
scholar	rs189754995
google	rs189754995
pharmgkb	rs189754995
gwascentral	rs189754995
openSNP	rs189754995
23andMe	rs189754995
SNPshot	rs189754995
SNPdbe	rs189754995
MSV3d	rs189754995
GWAS Ctlg	rs189754995

Max Magnitude

0

ClinVar
Risk	rs189754995(A;A) rs189754995(T;T)
Alt	rs189754995(A;A) rs189754995(T;T)
Reference	Rs189754995(G;G)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL9A1
CLNDBN	Stickler syndrome, type 4
Reversed	0
HGVS	NC_000006.11:g.70965078G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148951.2,