rs104894474

Orientation

plus

Stabilized

plus

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

Make rs104894474(G;T)

Make rs104894474(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67726086

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs104894474
dbSNP (classic)	rs104894474
ClinGen	rs104894474
ebi	rs104894474
HLI	rs104894474
Exac	rs104894474
Gnomad	rs104894474
Varsome	rs104894474
LitVar	rs104894474
Map	rs104894474
PheGenI	rs104894474
Biobank	rs104894474
1000 genomes	rs104894474
hgdp	rs104894474
ensembl	rs104894474
geneview	rs104894474
scholar	rs104894474
google	rs104894474
pharmgkb	rs104894474
gwascentral	rs104894474
openSNP	rs104894474
23andMe	rs104894474
SNPshot	rs104894474
SNPdbe	rs104894474
MSV3d	rs104894474
GWAS Ctlg	rs104894474

Max Magnitude

0

OMIM	608830
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894474(T;T)
Alt	rs104894474(T;T)
Reference	Rs104894474(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68192803G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002132.4,