rs104894914

red/green color vision

plus

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

Make rs104894914(C;C)

Make rs104894914(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154191716

Gene

OPN1MW

is a	snp
is	mentioned by
dbSNP	rs104894914
dbSNP (classic)	rs104894914
ClinGen	rs104894914
ebi	rs104894914
HLI	rs104894914
Exac	rs104894914
Gnomad	rs104894914
Varsome	rs104894914
LitVar	rs104894914
Map	rs104894914
PheGenI	rs104894914
Biobank	rs104894914
1000 genomes	rs104894914
hgdp	rs104894914
ensembl	rs104894914
geneview	rs104894914
scholar	rs104894914
google	rs104894914
pharmgkb	rs104894914
gwascentral	rs104894914
openSNP	rs104894914
23andMe	rs104894914
SNPshot	rs104894914
SNPdbe	rs104894914
MSV3d	rs104894914
GWAS Ctlg	rs104894914

Max Magnitude

0

OMIM	300821
Desc
Variant	0001
Related	also

[PMID 11772996] middle European ancestry, suggesting a founder effect. fairly common (2%) in the population but apparently was not always expressed. omim

ClinVar
Risk	rs104894914(C;C)
Alt	rs104894914(C;C)
Reference	Rs104894914(T;T)
Significance	Pathogenic
Disease	Colorblindness Cone monochromatism
Variation	info
Gene	OPN1MW
CLNDBN	Colorblindness, partial, deutan series Cone monochromatism
Reversed	0
HGVS	NC_000023.10:g.153457207T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011254.9, RCV000011257.7,