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rs1057519480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057519480(-;-)
Make rs1057519480(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position1611163
GeneFOXC1
is asnp
is mentioned by
dbSNPrs1057519480
dbSNP (old)rs1057519480
ClinGenrs1057519480
ebirs1057519480
HLIrs1057519480
Exacrs1057519480
Gnomadrs1057519480
Varsomers1057519480
LitVarrs1057519480
Maprs1057519480
PheGenIrs1057519480
Biobankrs1057519480
1000 genomesrs1057519480
hgdprs1057519480
ensemblrs1057519480
gopubmedrs1057519480
geneviewrs1057519480
scholarrs1057519480
googlers1057519480
pharmgkbrs1057519480
gwascentralrs1057519480
openSNPrs1057519480
23andMers1057519480
23andMe allrs1057519480
SNPshotrs1057519480
SNPdbers1057519480
MSV3drs1057519480
GWAS Ctlgrs1057519480
Max Magnitude0
ClinVar
Risk rs1057519480(-;-)
Alt rs1057519480(-;-)
Reference Rs1057519480(CT;CT)
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.1611398_1611399delCT
CLNSRC
CLNACC RCV000416550.1,