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rs104893951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893951(C;C)
Make rs104893951(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position1610780
GeneFOXC1
is asnp
is mentioned by
dbSNPrs104893951
ebirs104893951
HLIrs104893951
Exacrs104893951
Varsomers104893951
Maprs104893951
PheGenIrs104893951
hapmaprs104893951
1000 genomesrs104893951
hgdprs104893951
ensemblrs104893951
gopubmedrs104893951
geneviewrs104893951
scholarrs104893951
googlers104893951
pharmgkbrs104893951
gwascentralrs104893951
openSNPrs104893951
23andMers104893951
23andMe allrs104893951
SNP Nexus

SNPshotrs104893951
SNPdbers104893951
MSV3drs104893951
GWAS Ctlgrs104893951
Max Magnitude0
OMIM601090
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893951(A,C;A,C)
Alt rs104893951(A,C;A,C)
Reference rs104893951(T;T)
Significance Pathogenic
Disease Axenfeld anomaly Axenfeld-Rieger syndrome type 3 Irido-corneo-trabecular dysgenesis
Variation info
Gene FOXC1
CLNDBN Axenfeld anomaly Axenfeld-Rieger syndrome type 3 Irido-corneo-trabecular dysgenesis
Reversed 0
HGVS NC_000006.11:g.1611015T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008970.3, RCV000008971.3, RCV000008972.3,