rs122456135

Orientation

minus

Stabilized

minus

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

Make rs122456135(C;T)

Make rs122456135(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49219344

Gene

CACNA1F

is a	snp
is	mentioned by
dbSNP	rs122456135
dbSNP (classic)	rs122456135
ClinGen	rs122456135
ebi	rs122456135
HLI	rs122456135
Exac	rs122456135
Gnomad	rs122456135
Varsome	rs122456135
LitVar	rs122456135
Map	rs122456135
PheGenI	rs122456135
Biobank	rs122456135
1000 genomes	rs122456135
hgdp	rs122456135
ensembl	rs122456135
geneview	rs122456135
scholar	rs122456135
google	rs122456135
pharmgkb	rs122456135
gwascentral	rs122456135
openSNP	rs122456135
23andMe	rs122456135
SNPshot	rs122456135
SNPdbe	rs122456135
MSV3d	rs122456135
GWAS Ctlg	rs122456135

Max Magnitude

0

OMIM	300110
Desc
Variant	0004
Related	also

ClinVar
Risk	rs122456135(T;T)
Alt	rs122456135(T;T)
Reference	Rs122456135(C;C)
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.49075803G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012383.17,