rs121912952

Orientation

minus

Stabilized

minus

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

Make rs121912952(A;A)

Make rs121912952(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33178143

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912952
dbSNP (classic)	rs121912952
ClinGen	rs121912952
ebi	rs121912952
HLI	rs121912952
Exac	rs121912952
Gnomad	rs121912952
Varsome	rs121912952
LitVar	rs121912952
Map	rs121912952
PheGenI	rs121912952
Biobank	rs121912952
1000 genomes	rs121912952
hgdp	rs121912952
ensembl	rs121912952
geneview	rs121912952
scholar	rs121912952
google	rs121912952
pharmgkb	rs121912952
gwascentral	rs121912952
openSNP	rs121912952
23andMe	rs121912952
SNPshot	rs121912952
SNPdbe	rs121912952
MSV3d	rs121912952
GWAS Ctlg	rs121912952

Max Magnitude

0

OMIM	120290
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912952(A;A)
Alt	rs121912952(A;A)
Reference	Rs121912952(C;C)
Significance	Pathogenic
Disease	Deafness not specified
Variation	info
Gene	COL11A2
CLNDBN	Deafness, autosomal recessive 53 not specified
Reversed	1
HGVS	NC_000006.11:g.33145920G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018667.27, RCV000217775.1,