rs121912947

Orientation

minus

Stabilized

minus

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

Make rs121912947(C;T)

Make rs121912947(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33171763

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912947
dbSNP (classic)	rs121912947
ClinGen	rs121912947
ebi	rs121912947
HLI	rs121912947
Exac	rs121912947
Gnomad	rs121912947
Varsome	rs121912947
LitVar	rs121912947
Map	rs121912947
PheGenI	rs121912947
Biobank	rs121912947
1000 genomes	rs121912947
hgdp	rs121912947
ensembl	rs121912947
geneview	rs121912947
scholar	rs121912947
google	rs121912947
pharmgkb	rs121912947
gwascentral	rs121912947
openSNP	rs121912947
23andMe	rs121912947
SNPshot	rs121912947
SNPdbe	rs121912947
MSV3d	rs121912947
GWAS Ctlg	rs121912947

Max Magnitude

0

OMIM	120290
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912947(T;T)
Alt	rs121912947(T;T)
Reference	Rs121912947(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	COL11A2
CLNDBN	Deafness, autosomal dominant 13
Reversed	1
HGVS	NC_000006.11:g.33139540G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018662.24,