rs62638194

Orientation

plus

Stabilized

plus

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

Make rs62638194(G;G)

Make rs62638194(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

55724429

Gene	BLOC1S1-RDH5, RDH5

is a	snp
is	mentioned by
dbSNP	rs62638194
dbSNP (classic)	rs62638194
ClinGen	rs62638194
ebi	rs62638194
HLI	rs62638194
Exac	rs62638194
Gnomad	rs62638194
Varsome	rs62638194
LitVar	rs62638194
Map	rs62638194
PheGenI	rs62638194
Biobank	rs62638194
1000 genomes	rs62638194
hgdp	rs62638194
ensembl	rs62638194
geneview	rs62638194
scholar	rs62638194
google	rs62638194
pharmgkb	rs62638194
gwascentral	rs62638194
openSNP	rs62638194
23andMe	rs62638194
SNPshot	rs62638194
SNPdbe	rs62638194
MSV3d	rs62638194
GWAS Ctlg	rs62638194

Max Magnitude

0

OMIM	601617
Desc
Variant	0006
Related	also

ClinVar
Risk	rs62638194(C;C) rs62638194(G;G)
Alt	rs62638194(C;C) rs62638194(G;G)
Reference	Rs62638194(T;T)
Significance	Pathogenic
Disease	Fundus albipunctatus
Variation	info
Gene	RDH5 BLOC1S1-RDH5
CLNDBN	Fundus albipunctatus, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.56118213T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008472.2,