rs121434337

Orientation

plus

Stabilized

plus

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

Make rs121434337(C;T)

Make rs121434337(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67726996

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs121434337
dbSNP (classic)	rs121434337
ClinGen	rs121434337
ebi	rs121434337
HLI	rs121434337
Exac	rs121434337
Gnomad	rs121434337
Varsome	rs121434337
LitVar	rs121434337
Map	rs121434337
PheGenI	rs121434337
Biobank	rs121434337
1000 genomes	rs121434337
hgdp	rs121434337
ensembl	rs121434337
geneview	rs121434337
scholar	rs121434337
google	rs121434337
pharmgkb	rs121434337
gwascentral	rs121434337
openSNP	rs121434337
23andMe	rs121434337
SNPshot	rs121434337
SNPdbe	rs121434337
MSV3d	rs121434337
GWAS Ctlg	rs121434337

Max Magnitude

0

OMIM	608830
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121434337(T;T)
Alt	rs121434337(T;T)
Reference	Rs121434337(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68193713C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002140.3,