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rs121907930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907930(A;A)
Make rs121907930(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89810716
GeneFANCA
is asnp
is mentioned by
dbSNPrs121907930
dbSNP (classic)rs121907930
ClinGenrs121907930
ebirs121907930
HLIrs121907930
Exacrs121907930
Gnomadrs121907930
Varsomers121907930
LitVarrs121907930
Maprs121907930
PheGenIrs121907930
Biobankrs121907930
1000 genomesrs121907930
hgdprs121907930
ensemblrs121907930
geneviewrs121907930
scholarrs121907930
googlers121907930
pharmgkbrs121907930
gwascentralrs121907930
openSNPrs121907930
23andMers121907930
SNPshotrs121907930
SNPdbers121907930
MSV3drs121907930
GWAS Ctlgrs121907930
Max Magnitude0
OMIM607139
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121907930(A;A)
Alt rs121907930(A;A)
Reference Rs121907930(G;G)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCA
CLNDBN Fanconi anemia, complementation group A
Reversed 1
HGVS NC_000016.9:g.89877124C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003616.4,