Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517147(-;-)
Make rs1057517147(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95249175
GeneFANCC
is asnp
is mentioned by
dbSNPrs1057517147
dbSNP (classic)rs1057517147
ClinGenrs1057517147
ebirs1057517147
HLIrs1057517147
Exacrs1057517147
Gnomadrs1057517147
Varsomers1057517147
LitVarrs1057517147
Maprs1057517147
PheGenIrs1057517147
Biobankrs1057517147
1000 genomesrs1057517147
hgdprs1057517147
ensemblrs1057517147
geneviewrs1057517147
scholarrs1057517147
googlers1057517147
pharmgkbrs1057517147
gwascentralrs1057517147
openSNPrs1057517147
23andMers1057517147
SNPshotrs1057517147
SNPdbers1057517147
MSV3drs1057517147
GWAS Ctlgrs1057517147
Max Magnitude0
ClinVar
Risk rs1057517147(-;-)
Alt rs1057517147(-;-)
Reference Rs1057517147(T;T)
Significance Probable-Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C
Reversed 1
HGVS NC_000009.11:g.98011457delA
CLNSRC
CLNACC RCV000408990.1,