rs104894473

Orientation

plus

Stabilized

plus

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

Make rs104894473(A;A)

Make rs104894473(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67724556

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs104894473
dbSNP (classic)	rs104894473
ClinGen	rs104894473
ebi	rs104894473
HLI	rs104894473
Exac	rs104894473
Gnomad	rs104894473
Varsome	rs104894473
LitVar	rs104894473
Map	rs104894473
PheGenI	rs104894473
Biobank	rs104894473
1000 genomes	rs104894473
hgdp	rs104894473
ensembl	rs104894473
geneview	rs104894473
scholar	rs104894473
google	rs104894473
pharmgkb	rs104894473
gwascentral	rs104894473
openSNP	rs104894473
23andMe	rs104894473
SNPshot	rs104894473
SNPdbe	rs104894473
MSV3d	rs104894473
GWAS Ctlg	rs104894473

Max Magnitude

0

OMIM	608830
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894473(A;A)
Alt	rs104894473(A;A)
Reference	Rs104894473(T;T)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68191273T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002138.3,