rs104894472

Orientation

plus

Stabilized

plus

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

Make rs104894472(C;C)

Make rs104894472(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67727055

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs104894472
dbSNP (classic)	rs104894472
ClinGen	rs104894472
ebi	rs104894472
HLI	rs104894472
Exac	rs104894472
Gnomad	rs104894472
Varsome	rs104894472
LitVar	rs104894472
Map	rs104894472
PheGenI	rs104894472
Biobank	rs104894472
1000 genomes	rs104894472
hgdp	rs104894472
ensembl	rs104894472
geneview	rs104894472
scholar	rs104894472
google	rs104894472
pharmgkb	rs104894472
gwascentral	rs104894472
openSNP	rs104894472
23andMe	rs104894472
SNPshot	rs104894472
SNPdbe	rs104894472
MSV3d	rs104894472
GWAS Ctlg	rs104894472

Max Magnitude

0

OMIM	608830
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894472(C;C)
Alt	rs104894472(C;C)
Reference	Rs104894472(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.68193772T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002137.4,