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rs121917788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917788(C;T)
Make rs121917788(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10043119
GeneFANCD2
is asnp
is mentioned by
dbSNPrs121917788
ebirs121917788
HLIrs121917788
Exacrs121917788
Varsomers121917788
Maprs121917788
PheGenIrs121917788
hapmaprs121917788
1000 genomesrs121917788
hgdprs121917788
ensemblrs121917788
gopubmedrs121917788
geneviewrs121917788
scholarrs121917788
googlers121917788
pharmgkbrs121917788
gwascentralrs121917788
openSNPrs121917788
23andMers121917788
23andMe allrs121917788
SNP Nexus

SNPshotrs121917788
SNPdbers121917788
MSV3drs121917788
GWAS Ctlgrs121917788
Max Magnitude0
OMIM227646
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917788(T;T)
Alt rs121917788(T;T)
Reference rs121917788(C;C)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCD2
CLNDBN Fanconi anemia, complementation group D2
Reversed 0
HGVS NC_000003.11:g.10084803C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012821.2,