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rs1057516247

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516247(-;-)
Make rs1057516247(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95240648
GeneFANCC
is asnp
is mentioned by
dbSNPrs1057516247
dbSNP (old)rs1057516247
ClinGenrs1057516247
ebirs1057516247
HLIrs1057516247
Exacrs1057516247
Gnomadrs1057516247
Varsomers1057516247
Maprs1057516247
PheGenIrs1057516247
Biobankrs1057516247
1000 genomesrs1057516247
hgdprs1057516247
ensemblrs1057516247
gopubmedrs1057516247
geneviewrs1057516247
scholarrs1057516247
googlers1057516247
pharmgkbrs1057516247
gwascentralrs1057516247
openSNPrs1057516247
23andMers1057516247
23andMe allrs1057516247
SNPshotrs1057516247
SNPdbers1057516247
MSV3drs1057516247
GWAS Ctlgrs1057516247
Max Magnitude0
ClinVar
Risk rs1057516247(-;-)
Alt rs1057516247(-;-)
Reference Rs1057516247(G;G)
Significance Probable-Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C
Reversed 1
HGVS NC_000009.11:g.98002930delC
CLNSRC
CLNACC RCV000412431.1,