Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434506(C;T)
Make rs121434506(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35455919
GeneFANCE
is asnp
is mentioned by
dbSNPrs121434506
dbSNP (classic)rs121434506
ClinGenrs121434506
ebirs121434506
HLIrs121434506
Exacrs121434506
Gnomadrs121434506
Varsomers121434506
LitVarrs121434506
Maprs121434506
PheGenIrs121434506
Biobankrs121434506
1000 genomesrs121434506
hgdprs121434506
ensemblrs121434506
geneviewrs121434506
scholarrs121434506
googlers121434506
pharmgkbrs121434506
gwascentralrs121434506
openSNPrs121434506
23andMers121434506
SNPshotrs121434506
SNPdbers121434506
MSV3drs121434506
GWAS Ctlgrs121434506
Max Magnitude0
OMIM600901
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434506(T;T)
Alt rs121434506(T;T)
Reference Rs121434506(C;C)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCE
CLNDBN Fanconi anemia, complementation group E
Reversed 0
HGVS NC_000006.11:g.35423696C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009248.3,