rs121434473

Orientation

plus

Stabilized

plus

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

Make rs121434473(A;A)

Make rs121434473(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

12183

is a	snp
is	mentioned by
dbSNP	rs121434473
dbSNP (classic)	rs121434473
ClinGen	rs121434473
ebi	rs121434473
HLI	rs121434473
Exac	rs121434473
Gnomad	rs121434473
Varsome	rs121434473
LitVar	rs121434473
Map	rs121434473
PheGenI	rs121434473
Biobank	rs121434473
1000 genomes	rs121434473
hgdp	rs121434473
ensembl	rs121434473
geneview	rs121434473
scholar	rs121434473
google	rs121434473
pharmgkb	rs121434473
gwascentral	rs121434473
openSNP	rs121434473
23andMe	rs121434473
SNPshot	rs121434473
SNPdbe	rs121434473
MSV3d	rs121434473
GWAS Ctlg	rs121434473

Max Magnitude

0

ClinVar
Risk	rs121434473(A;A)
Alt	rs121434473(A;A)
Reference	Rs121434473(G;G)
Significance	Pathogenic
Disease	Pigmentary retinopathy and sensorineural deafness
Variation	info
Gene
CLNDBN	Pigmentary retinopathy and sensorineural deafness
Reversed	0
HGVS	NC_012920.1:m.12183G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010233.5,