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rs1057519482

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519482(A;A)
Make rs1057519482(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position1611710
GeneFOXC1
is asnp
is mentioned by
dbSNPrs1057519482
dbSNP (old)rs1057519482
ClinGenrs1057519482
ebirs1057519482
HLIrs1057519482
Exacrs1057519482
Gnomadrs1057519482
Varsomers1057519482
Maprs1057519482
PheGenIrs1057519482
Biobankrs1057519482
1000 genomesrs1057519482
hgdprs1057519482
ensemblrs1057519482
gopubmedrs1057519482
geneviewrs1057519482
scholarrs1057519482
googlers1057519482
pharmgkbrs1057519482
gwascentralrs1057519482
openSNPrs1057519482
23andMers1057519482
23andMe allrs1057519482
SNPshotrs1057519482
SNPdbers1057519482
MSV3drs1057519482
GWAS Ctlgrs1057519482
Max Magnitude0
ClinVar
Risk rs1057519482(A;A)
Alt rs1057519482(A;A)
Reference Rs1057519482(C;C)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 3
Variation info
Gene FOXC1
CLNDBN Axenfeld-Rieger syndrome type 3
Reversed 0
HGVS NC_000006.11:g.1611945C>A
CLNSRC
CLNACC RCV000416528.1,