rs104894476

Orientation

plus

Stabilized

plus

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

Make rs104894476(C;G)

Make rs104894476(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67729220

Gene	GPHN, RDH12, ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs104894476
dbSNP (classic)	rs104894476
ClinGen	rs104894476
ebi	rs104894476
HLI	rs104894476
Exac	rs104894476
Gnomad	rs104894476
Varsome	rs104894476
LitVar	rs104894476
Map	rs104894476
PheGenI	rs104894476
Biobank	rs104894476
1000 genomes	rs104894476
hgdp	rs104894476
ensembl	rs104894476
geneview	rs104894476
scholar	rs104894476
google	rs104894476
pharmgkb	rs104894476
gwascentral	rs104894476
openSNP	rs104894476
23andMe	rs104894476
SNPshot	rs104894476
SNPdbe	rs104894476
MSV3d	rs104894476
GWAS Ctlg	rs104894476

Max Magnitude

0

OMIM	608830
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894476(G;G)
Alt	rs104894476(G;G)
Reference	Rs104894476(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.68195937C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002134.3,