rs864309523

Orientation

minus

Stabilized

minus

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

Make rs864309523(A;A)

Make rs864309523(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

33173522

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs864309523
dbSNP (classic)	rs864309523
ClinGen	rs864309523
ebi	rs864309523
HLI	rs864309523
Exac	rs864309523
Gnomad	rs864309523
Varsome	rs864309523
LitVar	rs864309523
Map	rs864309523
PheGenI	rs864309523
Biobank	rs864309523
1000 genomes	rs864309523
hgdp	rs864309523
ensembl	rs864309523
geneview	rs864309523
scholar	rs864309523
google	rs864309523
pharmgkb	rs864309523
gwascentral	rs864309523
openSNP	rs864309523
23andMe	rs864309523
SNPshot	rs864309523
SNPdbe	rs864309523
MSV3d	rs864309523
GWAS Ctlg	rs864309523

Max Magnitude

0

ClinVar
Risk	rs864309523(A;A)
Alt	rs864309523(A;A)
Reference	Rs864309523(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	COL11A2
CLNDBN	Deafness, autosomal recessive 53
Reversed	1
HGVS	NC_000006.11:g.33141299G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000202578.1,