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rs121917785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917785(G;G)
Make rs121917785(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position95107112
GeneC9orf3, FANCC, LOC107987102
is asnp
is mentioned by
dbSNPrs121917785
dbSNP (classic)rs121917785
ClinGenrs121917785
ebirs121917785
HLIrs121917785
Exacrs121917785
Gnomadrs121917785
Varsomers121917785
LitVarrs121917785
Maprs121917785
PheGenIrs121917785
Biobankrs121917785
1000 genomesrs121917785
hgdprs121917785
ensemblrs121917785
geneviewrs121917785
scholarrs121917785
googlers121917785
pharmgkbrs121917785
gwascentralrs121917785
openSNPrs121917785
23andMers121917785
SNPshotrs121917785
SNPdbers121917785
MSV3drs121917785
GWAS Ctlgrs121917785
Max Magnitude0
OMIM227645
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121917785(G;G)
Alt rs121917785(G;G)
Reference Rs121917785(T;T)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C
Reversed 1
HGVS NC_000009.11:g.97869394A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012830.3,