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rs1057519475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519475(C;T)
Make rs1057519475(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position1610761
GeneFOXC1
is asnp
is mentioned by
dbSNPrs1057519475
dbSNP (old)rs1057519475
ClinGenrs1057519475
ebirs1057519475
HLIrs1057519475
Exacrs1057519475
Gnomadrs1057519475
Varsomers1057519475
Maprs1057519475
PheGenIrs1057519475
Biobankrs1057519475
1000 genomesrs1057519475
hgdprs1057519475
ensemblrs1057519475
gopubmedrs1057519475
geneviewrs1057519475
scholarrs1057519475
googlers1057519475
pharmgkbrs1057519475
gwascentralrs1057519475
openSNPrs1057519475
23andMers1057519475
23andMe allrs1057519475
SNPshotrs1057519475
SNPdbers1057519475
MSV3drs1057519475
GWAS Ctlgrs1057519475
Max Magnitude0
ClinVar
Risk rs1057519475(T;T)
Alt rs1057519475(T;T)
Reference Rs1057519475(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.1610996C>T
CLNSRC
CLNACC RCV000416495.1,