rs28940315

Orientation

plus

Stabilized

plus

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

Make rs28940315(A;A)

Make rs28940315(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67725206

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs28940315
dbSNP (classic)	rs28940315
ClinGen	rs28940315
ebi	rs28940315
HLI	rs28940315
Exac	rs28940315
Gnomad	rs28940315
Varsome	rs28940315
LitVar	rs28940315
Map	rs28940315
PheGenI	rs28940315
Biobank	rs28940315
1000 genomes	rs28940315
hgdp	rs28940315
ensembl	rs28940315
geneview	rs28940315
scholar	rs28940315
google	rs28940315
pharmgkb	rs28940315
gwascentral	rs28940315
openSNP	rs28940315
23andMe	rs28940315
SNPshot	rs28940315
SNPdbe	rs28940315
MSV3d	rs28940315
GWAS Ctlg	rs28940315

GMAF

0.0009183

Max Magnitude

0

OMIM	608830
Desc	LEBER CONGENITAL AMAUROSIS, TYPE III
Variant	0010
Related	also

ClinVar
Risk	rs28940315(A;A)
Alt	rs28940315(A;A)
Reference	Rs28940315(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.68191923C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002136.4,