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rs121918164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918164(C;T)
Make rs121918164(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89315318
GeneFANCI
is asnp
is mentioned by
dbSNPrs121918164
dbSNP (classic)rs121918164
ClinGenrs121918164
ebirs121918164
HLIrs121918164
Exacrs121918164
Gnomadrs121918164
Varsomers121918164
LitVarrs121918164
Maprs121918164
PheGenIrs121918164
Biobankrs121918164
1000 genomesrs121918164
hgdprs121918164
ensemblrs121918164
geneviewrs121918164
scholarrs121918164
googlers121918164
pharmgkbrs121918164
gwascentralrs121918164
openSNPrs121918164
23andMers121918164
SNPshotrs121918164
SNPdbers121918164
MSV3drs121918164
GWAS Ctlgrs121918164
Max Magnitude0
OMIM611360
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918164(T;T)
Alt rs121918164(T;T)
Reference Rs121918164(C;C)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCI
CLNDBN Fanconi anemia, complementation group I
Reversed 0
HGVS NC_000015.9:g.89858549C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001024.5,