rs80359870

minus

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

Make rs80359870(-;C)

Make rs80359870(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49216484

Gene

CACNA1F

is a	snp
is	mentioned by
dbSNP	rs80359870
dbSNP (classic)	rs80359870
ClinGen	rs80359870
ebi	rs80359870
HLI	rs80359870
Exac	rs80359870
Gnomad	rs80359870
Varsome	rs80359870
LitVar	rs80359870
Map	rs80359870
PheGenI	rs80359870
Biobank	rs80359870
1000 genomes	rs80359870
hgdp	rs80359870
ensembl	rs80359870
geneview	rs80359870
scholar	rs80359870
google	rs80359870
pharmgkb	rs80359870
gwascentral	rs80359870
openSNP	rs80359870
23andMe	rs80359870
SNPshot	rs80359870
SNPdbe	rs80359870
MSV3d	rs80359870
GWAS Ctlg	rs80359870

Max Magnitude

0

ClinVar
Risk	rs80359870(C;C)
Alt	rs80359870(C;C)
Reference	Rs80359870(-;-)
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.49072945dupG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020629.3,

[PMID 9662400] Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

[PMID 10900517] Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.