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rs1057518829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518829(A;T)
Make rs1057518829(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position49230343
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs1057518829
dbSNP (old)rs1057518829
ClinGenrs1057518829
ebirs1057518829
HLIrs1057518829
Exacrs1057518829
Gnomadrs1057518829
Varsomers1057518829
Maprs1057518829
PheGenIrs1057518829
Biobankrs1057518829
1000 genomesrs1057518829
hgdprs1057518829
ensemblrs1057518829
gopubmedrs1057518829
geneviewrs1057518829
scholarrs1057518829
googlers1057518829
pharmgkbrs1057518829
gwascentralrs1057518829
openSNPrs1057518829
23andMers1057518829
23andMe allrs1057518829
SNPshotrs1057518829
SNPdbers1057518829
MSV3drs1057518829
GWAS Ctlgrs1057518829
Max Magnitude0
ClinVar
Risk rs1057518829(T;T)
Alt rs1057518829(T;T)
Reference Rs1057518829(A;A)
Significance Probable-Pathogenic
Disease Amblyopia Myopia
Variation info
Gene CACNA1F
CLNDBN Amblyopia Myopia
Reversed 1
HGVS NC_000023.10:g.49086805T>A
CLNSRC
CLNACC RCV000415143.1,