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rs121918163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918163(A;A)
Make rs121918163(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89315319
GeneFANCI
is asnp
is mentioned by
dbSNPrs121918163
dbSNP (classic)rs121918163
ClinGenrs121918163
ebirs121918163
HLIrs121918163
Exacrs121918163
Gnomadrs121918163
Varsomers121918163
LitVarrs121918163
Maprs121918163
PheGenIrs121918163
Biobankrs121918163
1000 genomesrs121918163
hgdprs121918163
ensemblrs121918163
geneviewrs121918163
scholarrs121918163
googlers121918163
pharmgkbrs121918163
gwascentralrs121918163
openSNPrs121918163
23andMers121918163
SNPshotrs121918163
SNPdbers121918163
MSV3drs121918163
GWAS Ctlgrs121918163
Max Magnitude0
OMIM611360
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918163(A;A)
Alt rs121918163(A;A)
Reference Rs121918163(G;G)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCI
CLNDBN Fanconi anemia, complementation group I
Reversed 0
HGVS NC_000015.9:g.89858550G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001023.5,