Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519477(G;T)
Make rs1057519477(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position1610932
GeneFOXC1
is asnp
is mentioned by
dbSNPrs1057519477
dbSNP (classic)rs1057519477
ClinGenrs1057519477
ebirs1057519477
HLIrs1057519477
Exacrs1057519477
Gnomadrs1057519477
Varsomers1057519477
LitVarrs1057519477
Maprs1057519477
PheGenIrs1057519477
Biobankrs1057519477
1000 genomesrs1057519477
hgdprs1057519477
ensemblrs1057519477
geneviewrs1057519477
scholarrs1057519477
googlers1057519477
pharmgkbrs1057519477
gwascentralrs1057519477
openSNPrs1057519477
23andMers1057519477
SNPshotrs1057519477
SNPdbers1057519477
MSV3drs1057519477
GWAS Ctlgrs1057519477
Max Magnitude0
ClinVar
Risk rs1057519477(T;T)
Alt rs1057519477(T;T)
Reference Rs1057519477(G;G)
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.1611167G>T
CLNSRC
CLNACC RCV000416545.1,