rs606231423

Orientation

minus

Stabilized

minus

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

Make rs606231423(C;T)

Make rs606231423(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

67692588

Gene	GPHN, RDH11

is a	snp
is	mentioned by
dbSNP	rs606231423
dbSNP (classic)	rs606231423
ClinGen	rs606231423
ebi	rs606231423
HLI	rs606231423
Exac	rs606231423
Gnomad	rs606231423
Varsome	rs606231423
LitVar	rs606231423
Map	rs606231423
PheGenI	rs606231423
Biobank	rs606231423
1000 genomes	rs606231423
hgdp	rs606231423
ensembl	rs606231423
geneview	rs606231423
scholar	rs606231423
google	rs606231423
pharmgkb	rs606231423
gwascentral	rs606231423
openSNP	rs606231423
23andMe	rs606231423
SNPshot	rs606231423
SNPdbe	rs606231423
MSV3d	rs606231423
GWAS Ctlg	rs606231423

Max Magnitude

0

ClinVar
Risk	rs606231423(T;T)
Alt	rs606231423(T;T)
Reference	Rs606231423(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.68159305G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148296.4,