rs122456133

Orientation

minus

Stabilized

minus

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

Make rs122456133(A;A)

Make rs122456133(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49228048

Gene

CACNA1F

is a	snp
is	mentioned by
dbSNP	rs122456133
dbSNP (classic)	rs122456133
ClinGen	rs122456133
ebi	rs122456133
HLI	rs122456133
Exac	rs122456133
Gnomad	rs122456133
Varsome	rs122456133
LitVar	rs122456133
Map	rs122456133
PheGenI	rs122456133
Biobank	rs122456133
1000 genomes	rs122456133
hgdp	rs122456133
ensembl	rs122456133
geneview	rs122456133
scholar	rs122456133
google	rs122456133
pharmgkb	rs122456133
gwascentral	rs122456133
openSNP	rs122456133
23andMe	rs122456133
SNPshot	rs122456133
SNPdbe	rs122456133
MSV3d	rs122456133
GWAS Ctlg	rs122456133

Max Magnitude

0

OMIM	300110
Desc
Variant	0001
Related	also

ClinVar
Risk	rs122456133(A;A)
Alt	rs122456133(A;A)
Reference	Rs122456133(G;G)
Significance	Pathogenic
Disease	Congenital stationary night blindness
Variation	info
Gene	CACNA1F
CLNDBN	Congenital stationary night blindness, type 2A
Reversed	1
HGVS	NC_000023.10:g.49084510C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012380.22,