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rs1057516199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516199(A;G)
Make rs1057516199(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position49217809
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs1057516199
dbSNP (old)rs1057516199
ClinGenrs1057516199
ebirs1057516199
HLIrs1057516199
Exacrs1057516199
Gnomadrs1057516199
Varsomers1057516199
Maprs1057516199
PheGenIrs1057516199
Biobankrs1057516199
1000 genomesrs1057516199
hgdprs1057516199
ensemblrs1057516199
gopubmedrs1057516199
geneviewrs1057516199
scholarrs1057516199
googlers1057516199
pharmgkbrs1057516199
gwascentralrs1057516199
openSNPrs1057516199
23andMers1057516199
23andMe allrs1057516199
SNPshotrs1057516199
SNPdbers1057516199
MSV3drs1057516199
GWAS Ctlgrs1057516199
Max Magnitude0
ClinVar
Risk rs1057516199(G;G)
Alt rs1057516199(G;G)
Reference Rs1057516199(A;A)
Significance Probable-Pathogenic
Disease Cone-rod dystrophy X-linked 3
Variation info
Gene CACNA1F
CLNDBN Cone-rod dystrophy X-linked 3
Reversed 1
HGVS NC_000023.10:g.49074268T>C
CLNSRC
CLNACC RCV000408778.1,