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rs121917786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917786(A;A)
Make rs121917786(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10090315
GeneFANCD2, FANCD2OS
is asnp
is mentioned by
dbSNPrs121917786
dbSNP (classic)rs121917786
ClinGenrs121917786
ebirs121917786
HLIrs121917786
Exacrs121917786
Gnomadrs121917786
Varsomers121917786
LitVarrs121917786
Maprs121917786
PheGenIrs121917786
Biobankrs121917786
1000 genomesrs121917786
hgdprs121917786
ensemblrs121917786
geneviewrs121917786
scholarrs121917786
googlers121917786
pharmgkbrs121917786
gwascentralrs121917786
openSNPrs121917786
23andMers121917786
SNPshotrs121917786
SNPdbers121917786
MSV3drs121917786
GWAS Ctlgrs121917786
Max Magnitude0
OMIM227646
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917786(A;A)
Alt rs121917786(A;A)
Reference Rs121917786(G;G)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCD2 FANCD2OS
CLNDBN Fanconi anemia, complementation group D2
Reversed 0
HGVS NC_000003.11:g.10131999G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012818.2,