rs1060499578

Orientation

plus

Stabilized

plus

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

Make rs1060499578(-;-)

Make rs1060499578(-;TCCA)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

67722699

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs1060499578
dbSNP (classic)	rs1060499578
ClinGen	rs1060499578
ebi	rs1060499578
HLI	rs1060499578
Exac	rs1060499578
Gnomad	rs1060499578
Varsome	rs1060499578
LitVar	rs1060499578
Map	rs1060499578
PheGenI	rs1060499578
Biobank	rs1060499578
1000 genomes	rs1060499578
hgdp	rs1060499578
ensembl	rs1060499578
geneview	rs1060499578
scholar	rs1060499578
google	rs1060499578
pharmgkb	rs1060499578
gwascentral	rs1060499578
openSNP	rs1060499578
23andMe	rs1060499578
SNPshot	rs1060499578
SNPdbe	rs1060499578
MSV3d	rs1060499578
GWAS Ctlg	rs1060499578

Max Magnitude

0

ClinVar
Risk	rs1060499578(-;-)
Alt	rs1060499578(-;-)
Reference	Rs1060499578(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,