rs121912948

Orientation

minus

Stabilized

minus

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

Make rs121912948(A;A)

Make rs121912948(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33174534

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912948
dbSNP (classic)	rs121912948
ClinGen	rs121912948
ebi	rs121912948
HLI	rs121912948
Exac	rs121912948
Gnomad	rs121912948
Varsome	rs121912948
LitVar	rs121912948
Map	rs121912948
PheGenI	rs121912948
Biobank	rs121912948
1000 genomes	rs121912948
hgdp	rs121912948
ensembl	rs121912948
geneview	rs121912948
scholar	rs121912948
google	rs121912948
pharmgkb	rs121912948
gwascentral	rs121912948
openSNP	rs121912948
23andMe	rs121912948
SNPshot	rs121912948
SNPdbe	rs121912948
MSV3d	rs121912948
GWAS Ctlg	rs121912948

Max Magnitude

0

OMIM	120290
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912948(A;A)
Alt	rs121912948(A;A)
Reference	Rs121912948(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	COL11A2
CLNDBN	Deafness, autosomal dominant 13
Reversed	1
HGVS	NC_000006.11:g.33142311C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018663.28,