rs794729650

Orientation

plus

Stabilized

plus

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

Make rs794729650(-;-)

Make rs794729650(-;CATC)

Make rs794729650(CATC;CATC)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

67722705

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs794729650
dbSNP (classic)	rs794729650
ClinGen	rs794729650
ebi	rs794729650
HLI	rs794729650
Exac	rs794729650
Gnomad	rs794729650
Varsome	rs794729650
LitVar	rs794729650
Map	rs794729650
PheGenI	rs794729650
Biobank	rs794729650
1000 genomes	rs794729650
hgdp	rs794729650
ensembl	rs794729650
geneview	rs794729650
scholar	rs794729650
google	rs794729650
pharmgkb	rs794729650
gwascentral	rs794729650
openSNP	rs794729650
23andMe	rs794729650
SNPshot	rs794729650
SNPdbe	rs794729650
MSV3d	rs794729650
GWAS Ctlg	rs794729650

Max Magnitude

0

ClinVar
Risk	rs794729650(-;-)
Alt	rs794729650(-;-)
Reference	Rs794729650(TCCA;TCCA)
Significance	Probable-Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68189422_68189425delCATC
CLNSRC
CLNACC	RCV000185560.3,