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rs878855046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCTTCTGGTAGA;TGCTTCTGGTAGA) 0 common in clinvar
Make rs878855046(-;-)
Make rs878855046(-;TGCTTCTGGTAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position58204163
GeneFANCL
is asnp
is mentioned by
dbSNPrs878855046
dbSNP (classic)rs878855046
ClinGenrs878855046
ebirs878855046
HLIrs878855046
Exacrs878855046
Gnomadrs878855046
Varsomers878855046
LitVarrs878855046
Maprs878855046
PheGenIrs878855046
Biobankrs878855046
1000 genomesrs878855046
hgdprs878855046
ensemblrs878855046
geneviewrs878855046
scholarrs878855046
googlers878855046
pharmgkbrs878855046
gwascentralrs878855046
openSNPrs878855046
23andMers878855046
SNPshotrs878855046
SNPdbers878855046
MSV3drs878855046
GWAS Ctlgrs878855046
Max Magnitude0
ClinVar
Risk rs878855046(-;-)
Alt rs878855046(-;-)
Reference Rs878855046(TGCTTCTGGTAGA;TGCTTCTGGTAGA)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCL
CLNDBN Fanconi anemia
Reversed 1
HGVS NC_000002.11:g.58431298_58431310delTCTACCAGAAGCA
CLNSRC
CLNACC RCV000232991.1,