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rs33910054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33910054(A;A)
Make rs33910054(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position49205282
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs33910054
ebirs33910054
HLIrs33910054
Exacrs33910054
Varsomers33910054
Maprs33910054
PheGenIrs33910054
hapmaprs33910054
1000 genomesrs33910054
hgdprs33910054
ensemblrs33910054
gopubmedrs33910054
geneviewrs33910054
scholarrs33910054
googlers33910054
pharmgkbrs33910054
gwascentralrs33910054
openSNPrs33910054
23andMers33910054
23andMe allrs33910054
SNP Nexus

SNPshotrs33910054
SNPdbers33910054
MSV3drs33910054
GWAS Ctlgrs33910054
GMAF0.09129
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CACNA1F
allele T
frequency
sift TOLERATED
HuRef 1103673031432
Disease Association Defects in CACNA1F are the cause of incomplete X-linked congenital stationary night blindness type 2 (CSNB2) (MIM:300071). CSNB2 is a nonprogressive retinal disorder characterized by decreased visual acuity and loss of night vision.



ClinVar
Risk rs33910054(A;A)
Alt rs33910054(A;A)
Reference rs33910054(G;G)
Significance Untested
Disease not provided
Variation info
Gene CACNA1F
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.49061742C>T
CLNSRC ClinVar
CLNACC RCV000086958.1,



GET Evidence
CACNA1F-R1930H
aa_change Arg1930His
aa_change_short R1930H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0599247
summary