rs104894033

Orientation

minus

Stabilized

minus

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

Make rs104894033(C;T)

Make rs104894033(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128773786

Gene	CALU, OPN1SW

is a	snp
is	mentioned by
dbSNP	rs104894033
dbSNP (classic)	rs104894033
ClinGen	rs104894033
ebi	rs104894033
HLI	rs104894033
Exac	rs104894033
Gnomad	rs104894033
Varsome	rs104894033
LitVar	rs104894033
Map	rs104894033
PheGenI	rs104894033
Biobank	rs104894033
1000 genomes	rs104894033
hgdp	rs104894033
ensembl	rs104894033
geneview	rs104894033
scholar	rs104894033
google	rs104894033
pharmgkb	rs104894033
gwascentral	rs104894033
openSNP	rs104894033
23andMe	rs104894033
SNPshot	rs104894033
SNPdbe	rs104894033
MSV3d	rs104894033
GWAS Ctlg	rs104894033

Max Magnitude

0

OMIM	613522
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894033(T;T)
Alt	rs104894033(T;T)
Reference	Rs104894033(C;C)
Significance	Pathogenic
Disease	Tritanopia
Variation	info
Gene	CALU OPN1SW
CLNDBN	Tritanopia
Reversed	1
HGVS	NC_000007.13:g.128413840G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000081.2,