rs104894470

Orientation

plus

Stabilized

plus

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

Make rs104894470(C;T)

Make rs104894470(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67727097

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs104894470
dbSNP (classic)	rs104894470
ClinGen	rs104894470
ebi	rs104894470
HLI	rs104894470
Exac	rs104894470
Gnomad	rs104894470
Varsome	rs104894470
LitVar	rs104894470
Map	rs104894470
PheGenI	rs104894470
Biobank	rs104894470
1000 genomes	rs104894470
hgdp	rs104894470
ensembl	rs104894470
geneview	rs104894470
scholar	rs104894470
google	rs104894470
pharmgkb	rs104894470
gwascentral	rs104894470
openSNP	rs104894470
23andMe	rs104894470
SNPshot	rs104894470
SNPdbe	rs104894470
MSV3d	rs104894470
GWAS Ctlg	rs104894470

Max Magnitude

0

OMIM	608830
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894470(T;T)
Alt	rs104894470(T;T)
Reference	Rs104894470(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.68193814C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002129.3,