rs606231424

Orientation

minus

Stabilized

minus

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

Make rs606231424(C;T)

Make rs606231424(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

67692465

Gene	GPHN, RDH11

is a	snp
is	mentioned by
dbSNP	rs606231424
dbSNP (classic)	rs606231424
ClinGen	rs606231424
ebi	rs606231424
HLI	rs606231424
Exac	rs606231424
Gnomad	rs606231424
Varsome	rs606231424
LitVar	rs606231424
Map	rs606231424
PheGenI	rs606231424
Biobank	rs606231424
1000 genomes	rs606231424
hgdp	rs606231424
ensembl	rs606231424
geneview	rs606231424
scholar	rs606231424
google	rs606231424
pharmgkb	rs606231424
gwascentral	rs606231424
openSNP	rs606231424
23andMe	rs606231424
SNPshot	rs606231424
SNPdbe	rs606231424
MSV3d	rs606231424
GWAS Ctlg	rs606231424

Max Magnitude

0

ClinVar
Risk	rs606231424(T;T)
Alt	rs606231424(T;T)
Reference	Rs606231424(C;C)
Significance	Pathogenic
Disease	Retinal dystrophy
Variation	info
Gene	RDH11
CLNDBN	Retinal dystrophy, juvenile cataracts, and short stature syndrome
Reversed	1
HGVS	NC_000014.8:g.68159182G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148297.4,