rs104894475

Orientation

plus

Stabilized

plus

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

Make rs104894475(C;G)

Make rs104894475(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67726983

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs104894475
dbSNP (classic)	rs104894475
ClinGen	rs104894475
ebi	rs104894475
HLI	rs104894475
Exac	rs104894475
Gnomad	rs104894475
Varsome	rs104894475
LitVar	rs104894475
Map	rs104894475
PheGenI	rs104894475
Biobank	rs104894475
1000 genomes	rs104894475
hgdp	rs104894475
ensembl	rs104894475
geneview	rs104894475
scholar	rs104894475
google	rs104894475
pharmgkb	rs104894475
gwascentral	rs104894475
openSNP	rs104894475
23andMe	rs104894475
SNPshot	rs104894475
SNPdbe	rs104894475
MSV3d	rs104894475
GWAS Ctlg	rs104894475

Max Magnitude

0

OMIM	608830
Desc
Variant	0007
Related	also

OMIM	608830
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894475(A;A) rs104894475(G;G)
Alt	rs104894475(A;A) rs104894475(G;G)
Reference	Rs104894475(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.68193700C>A; NC_000014.8:g.68193700C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002133.3, RCV000002135.3,