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rs1057517219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517219(A;C)
Make rs1057517219(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95240745
GeneFANCC
is asnp
is mentioned by
dbSNPrs1057517219
dbSNP (classic)rs1057517219
ClinGenrs1057517219
ebirs1057517219
HLIrs1057517219
Exacrs1057517219
Gnomadrs1057517219
Varsomers1057517219
LitVarrs1057517219
Maprs1057517219
PheGenIrs1057517219
Biobankrs1057517219
1000 genomesrs1057517219
hgdprs1057517219
ensemblrs1057517219
geneviewrs1057517219
scholarrs1057517219
googlers1057517219
pharmgkbrs1057517219
gwascentralrs1057517219
openSNPrs1057517219
23andMers1057517219
SNPshotrs1057517219
SNPdbers1057517219
MSV3drs1057517219
GWAS Ctlgrs1057517219
Max Magnitude0
ClinVar
Risk rs1057517219(C;C)
Alt rs1057517219(C;C)
Reference Rs1057517219(A;A)
Significance Probable-Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C
Reversed 1
HGVS NC_000009.11:g.98003027T>G
CLNSRC
CLNACC RCV000410988.1,