rs797044761

Orientation

plus

Stabilized

plus

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

Make rs797044761(-;C)

Make rs797044761(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

67725121

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs797044761
dbSNP (classic)	rs797044761
ClinGen	rs797044761
ebi	rs797044761
HLI	rs797044761
Exac	rs797044761
Gnomad	rs797044761
Varsome	rs797044761
LitVar	rs797044761
Map	rs797044761
PheGenI	rs797044761
Biobank	rs797044761
1000 genomes	rs797044761
hgdp	rs797044761
ensembl	rs797044761
geneview	rs797044761
scholar	rs797044761
google	rs797044761
pharmgkb	rs797044761
gwascentral	rs797044761
openSNP	rs797044761
23andMe	rs797044761
SNPshot	rs797044761
SNPdbe	rs797044761
MSV3d	rs797044761
GWAS Ctlg	rs797044761

Max Magnitude

0

ClinVar
Risk	rs797044761(C;C)
Alt	rs797044761(C;C)
Reference	Rs797044761(-;-)
Significance	Pathogenic
Disease	not provided Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	not provided Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68191838dupC
CLNSRC
CLNACC	RCV000179019.1, RCV000330650.1,