rs62638191

Orientation

plus

Stabilized

plus

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

Make rs62638191(A;A)

Make rs62638191(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

55724028

Gene	BLOC1S1-RDH5, RDH5

is a	snp
is	mentioned by
dbSNP	rs62638191
dbSNP (classic)	rs62638191
ClinGen	rs62638191
ebi	rs62638191
HLI	rs62638191
Exac	rs62638191
Gnomad	rs62638191
Varsome	rs62638191
LitVar	rs62638191
Map	rs62638191
PheGenI	rs62638191
Biobank	rs62638191
1000 genomes	rs62638191
hgdp	rs62638191
ensembl	rs62638191
geneview	rs62638191
scholar	rs62638191
google	rs62638191
pharmgkb	rs62638191
gwascentral	rs62638191
openSNP	rs62638191
23andMe	rs62638191
SNPshot	rs62638191
SNPdbe	rs62638191
MSV3d	rs62638191
GWAS Ctlg	rs62638191

GMAF

0.0009183

Max Magnitude

0

OMIM	601617
Desc
Variant	0001
Related	also

ClinVar
Risk	rs62638191(A;A) rs62638191(C;C) rs62638191(T;T)
Alt	rs62638191(A;A) rs62638191(C;C) rs62638191(T;T)
Reference	Rs62638191(G;G)
Significance	Pathogenic
Disease	Fundus albipunctatus
Variation	info
Gene	RDH5 BLOC1S1-RDH5
CLNDBN	Fundus albipunctatus, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.56117812G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008467.2,