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rs104893953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893953(C;C)
Make rs104893953(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position1610690
GeneFOXC1
is asnp
is mentioned by
dbSNPrs104893953
dbSNP (classic)rs104893953
ClinGenrs104893953
ebirs104893953
HLIrs104893953
Exacrs104893953
Gnomadrs104893953
Varsomers104893953
LitVarrs104893953
Maprs104893953
PheGenIrs104893953
Biobankrs104893953
1000 genomesrs104893953
hgdprs104893953
ensemblrs104893953
geneviewrs104893953
scholarrs104893953
googlers104893953
pharmgkbrs104893953
gwascentralrs104893953
openSNPrs104893953
23andMers104893953
SNPshotrs104893953
SNPdbers104893953
MSV3drs104893953
GWAS Ctlgrs104893953
Max Magnitude0
OMIM601090
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893953(C;C)
Alt rs104893953(C;C)
Reference Rs104893953(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.1610925G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008978.2,