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rs104893954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893954(C;G)
Make rs104893954(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position1610706
GeneFOXC1
is asnp
is mentioned by
dbSNPrs104893954
dbSNP (classic)rs104893954
ClinGenrs104893954
ebirs104893954
HLIrs104893954
Exacrs104893954
Gnomadrs104893954
Varsomers104893954
LitVarrs104893954
Maprs104893954
PheGenIrs104893954
Biobankrs104893954
1000 genomesrs104893954
hgdprs104893954
ensemblrs104893954
geneviewrs104893954
scholarrs104893954
googlers104893954
pharmgkbrs104893954
gwascentralrs104893954
openSNPrs104893954
23andMers104893954
SNPshotrs104893954
SNPdbers104893954
MSV3drs104893954
GWAS Ctlgrs104893954
Max Magnitude0
OMIM601090
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893954(G;G)
Alt rs104893954(G;G)
Reference Rs104893954(C;C)
Significance Pathogenic
Disease Iridogoniodysgenesis type1
Variation info
Gene FOXC1
CLNDBN Iridogoniodysgenesis type1
Reversed 0
HGVS NC_000006.11:g.1610941C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008979.3,