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rs80359870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80359870(-;-)
Make rs80359870(-;C)
Make rs80359870(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49216484
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs80359870
ebirs80359870
HLIrs80359870
Exacrs80359870
Varsomers80359870
Maprs80359870
PheGenIrs80359870
hapmaprs80359870
1000 genomesrs80359870
hgdprs80359870
ensemblrs80359870
gopubmedrs80359870
geneviewrs80359870
scholarrs80359870
googlers80359870
pharmgkbrs80359870
gwascentralrs80359870
openSNPrs80359870
23andMers80359870
23andMe allrs80359870
SNP Nexus

SNPshotrs80359870
SNPdbers80359870
MSV3drs80359870
GWAS Ctlgrs80359870
Max Magnitude0
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 RCV000020629.2,


[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.