rs28940313

Orientation

plus

Stabilized

plus

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

Make rs28940313(A;G)

Make rs28940313(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67729209

Gene	GPHN, RDH12, ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs28940313
dbSNP (classic)	rs28940313
ClinGen	rs28940313
ebi	rs28940313
HLI	rs28940313
Exac	rs28940313
Gnomad	rs28940313
Varsome	rs28940313
LitVar	rs28940313
Map	rs28940313
PheGenI	rs28940313
Biobank	rs28940313
1000 genomes	rs28940313
hgdp	rs28940313
ensembl	rs28940313
geneview	rs28940313
scholar	rs28940313
google	rs28940313
pharmgkb	rs28940313
gwascentral	rs28940313
openSNP	rs28940313
23andMe	rs28940313
SNPshot	rs28940313
SNPdbe	rs28940313
MSV3d	rs28940313
GWAS Ctlg	rs28940313

Max Magnitude

0

OMIM	608830
Desc	LEBER CONGENITAL AMAUROSIS, TYPE III
Variant	0001
Related	also

ClinVar
Risk	rs28940313(G;G)
Alt	rs28940313(G;G)
Reference	Rs28940313(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68195926A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002127.3,