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rs104893611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893611(C;T)
Make rs104893611(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position130597896
GeneCFC1
is asnp
is mentioned by
dbSNPrs104893611
ebirs104893611
HLIrs104893611
Exacrs104893611
Varsomers104893611
Maprs104893611
PheGenIrs104893611
hapmaprs104893611
1000 genomesrs104893611
hgdprs104893611
ensemblrs104893611
gopubmedrs104893611
geneviewrs104893611
scholarrs104893611
googlers104893611
pharmgkbrs104893611
gwascentralrs104893611
openSNPrs104893611
23andMers104893611
23andMe allrs104893611
SNP Nexus

SNPshotrs104893611
SNPdbers104893611
MSV3drs104893611
GWAS Ctlgrs104893611
Max Magnitude0
OMIM605194
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893611(T;T)
Alt rs104893611(T;T)
Reference rs104893611(C;C)
Significance Pathogenic
Disease Heterotaxy
Variation info
Gene CFC1
CLNDBN Heterotaxy, visceral, 2, autosomal
Reversed 1
HGVS NC_000002.11:g.131355469G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005496.3,