rs750995470

Orientation

plus

Stabilized

plus

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

Make rs750995470(C;T)

Make rs750995470(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

33166512

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs750995470
dbSNP (classic)	rs750995470
ClinGen	rs750995470
ebi	rs750995470
HLI	rs750995470
Exac	rs750995470
Gnomad	rs750995470
Varsome	rs750995470
LitVar	rs750995470
Map	rs750995470
PheGenI	rs750995470
Biobank	rs750995470
1000 genomes	rs750995470
hgdp	rs750995470
ensembl	rs750995470
geneview	rs750995470
scholar	rs750995470
google	rs750995470
pharmgkb	rs750995470
gwascentral	rs750995470
openSNP	rs750995470
23andMe	rs750995470
SNPshot	rs750995470
SNPdbe	rs750995470
MSV3d	rs750995470
GWAS Ctlg	rs750995470

Max Magnitude

0

ClinVar
Risk	rs750995470(T;T)
Alt	rs750995470(T;T)
Reference	Rs750995470(C;C)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL11A2
CLNDBN	Stickler syndrome, type 3
Reversed	0
HGVS	NC_000006.11:g.33134289C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018657.28,