rs28940314

Orientation

plus

Stabilized

plus

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

Make rs28940314(C;T)

Make rs28940314(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67724550

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs28940314
dbSNP (classic)	rs28940314
ClinGen	rs28940314
ebi	rs28940314
HLI	rs28940314
Exac	rs28940314
Gnomad	rs28940314
Varsome	rs28940314
LitVar	rs28940314
Map	rs28940314
PheGenI	rs28940314
Biobank	rs28940314
1000 genomes	rs28940314
hgdp	rs28940314
ensembl	rs28940314
geneview	rs28940314
scholar	rs28940314
google	rs28940314
pharmgkb	rs28940314
gwascentral	rs28940314
openSNP	rs28940314
23andMe	rs28940314
SNPshot	rs28940314
SNPdbe	rs28940314
MSV3d	rs28940314
GWAS Ctlg	rs28940314

Max Magnitude

0

OMIM	608830
Desc	LEBER CONGENITAL AMAUROSIS, TYPE III
Variant	0004
Related	also

ClinVar
Risk	rs28940314(A;A) rs28940314(T;T)
Alt	rs28940314(A;A) rs28940314(T;T)
Reference	Rs28940314(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.68191267C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002130.3,