rs62638185

Orientation

plus

Stabilized

plus

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

Make rs62638185(C;T)

Make rs62638185(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

55721402

Gene	BLOC1S1-RDH5, RDH5

is a	snp
is	mentioned by
dbSNP	rs62638185
dbSNP (classic)	rs62638185
ClinGen	rs62638185
ebi	rs62638185
HLI	rs62638185
Exac	rs62638185
Gnomad	rs62638185
Varsome	rs62638185
LitVar	rs62638185
Map	rs62638185
PheGenI	rs62638185
Biobank	rs62638185
1000 genomes	rs62638185
hgdp	rs62638185
ensembl	rs62638185
geneview	rs62638185
scholar	rs62638185
google	rs62638185
pharmgkb	rs62638185
gwascentral	rs62638185
openSNP	rs62638185
23andMe	rs62638185
SNPshot	rs62638185
SNPdbe	rs62638185
MSV3d	rs62638185
GWAS Ctlg	rs62638185

Max Magnitude

0

OMIM	601617
Desc
Variant	0002
Related	also

ClinVar
Risk	rs62638185(T;T)
Alt	rs62638185(T;T)
Reference	Rs62638185(C;C)
Significance	Pathogenic
Disease	Fundus albipunctatus
Variation	info
Gene	RDH5 BLOC1S1-RDH5
CLNDBN	Fundus albipunctatus, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.56115186C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008468.2,