rs387906272

Orientation

plus

Stabilized

plus

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

Make rs387906272(A;A)

Make rs387906272(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67727191

Gene	GPHN, RDH12

is a	snp
is	mentioned by
dbSNP	rs387906272
dbSNP (classic)	rs387906272
ClinGen	rs387906272
ebi	rs387906272
HLI	rs387906272
Exac	rs387906272
Gnomad	rs387906272
Varsome	rs387906272
LitVar	rs387906272
Map	rs387906272
PheGenI	rs387906272
Biobank	rs387906272
1000 genomes	rs387906272
hgdp	rs387906272
ensembl	rs387906272
geneview	rs387906272
scholar	rs387906272
google	rs387906272
pharmgkb	rs387906272
gwascentral	rs387906272
openSNP	rs387906272
23andMe	rs387906272
SNPshot	rs387906272
SNPdbe	rs387906272
MSV3d	rs387906272
GWAS Ctlg	rs387906272

Max Magnitude

0

ClinVar
Risk	rs387906272(A;A)
Alt	rs387906272(A;A)
Reference	Rs387906272(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68193908G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002139.3,