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rs574034197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs574034197(C;C)
Make rs574034197(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position89746848
GeneFANCA
is asnp
is mentioned by
dbSNPrs574034197
dbSNP (classic)rs574034197
ClinGenrs574034197
ebirs574034197
HLIrs574034197
Exacrs574034197
Gnomadrs574034197
Varsomers574034197
LitVarrs574034197
Maprs574034197
PheGenIrs574034197
Biobankrs574034197
1000 genomesrs574034197
hgdprs574034197
ensemblrs574034197
geneviewrs574034197
scholarrs574034197
googlers574034197
pharmgkbrs574034197
gwascentralrs574034197
openSNPrs574034197
23andMers574034197
SNPshotrs574034197
SNPdbers574034197
MSV3drs574034197
GWAS Ctlgrs574034197
Max Magnitude0
ClinVar
Risk rs574034197(C;C) rs574034197(G;G)
Alt rs574034197(C;C) rs574034197(G;G)
Reference Rs574034197(T;T)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCA
CLNDBN Fanconi anemia
Reversed 0
HGVS NC_000016.9:g.89813256T>C
CLNSRC
CLNACC RCV000230300.2,