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rs104893952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893952(C;T)
Make rs104893952(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position1610512
GeneFOXC1
is asnp
is mentioned by
dbSNPrs104893952
ebirs104893952
HLIrs104893952
Exacrs104893952
Varsomers104893952
Maprs104893952
PheGenIrs104893952
hapmaprs104893952
1000 genomesrs104893952
hgdprs104893952
ensemblrs104893952
gopubmedrs104893952
geneviewrs104893952
scholarrs104893952
googlers104893952
pharmgkbrs104893952
gwascentralrs104893952
openSNPrs104893952
23andMers104893952
23andMe allrs104893952
SNP Nexus

SNPshotrs104893952
SNPdbers104893952
MSV3drs104893952
GWAS Ctlgrs104893952
Max Magnitude0
OMIM601090
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893952(T;T)
Alt rs104893952(T;T)
Reference rs104893952(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.1610747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008973.2,