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rs1057516248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516248(-;C)
Make rs1057516248(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95117349
GeneC9orf3, FANCC
is asnp
is mentioned by
dbSNPrs1057516248
dbSNP (classic)rs1057516248
ClinGenrs1057516248
ebirs1057516248
HLIrs1057516248
Exacrs1057516248
Gnomadrs1057516248
Varsomers1057516248
LitVarrs1057516248
Maprs1057516248
PheGenIrs1057516248
Biobankrs1057516248
1000 genomesrs1057516248
hgdprs1057516248
ensemblrs1057516248
geneviewrs1057516248
scholarrs1057516248
googlers1057516248
pharmgkbrs1057516248
gwascentralrs1057516248
openSNPrs1057516248
23andMers1057516248
23andMe allrs1057516248
SNPshotrs1057516248
SNPdbers1057516248
MSV3drs1057516248
GWAS Ctlgrs1057516248
Max Magnitude0
ClinVar
Risk rs1057516248(C;C)
Alt rs1057516248(C;C)
Reference Rs1057516248(-;-)
Significance Probable-Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C
Reversed 1
HGVS NC_000009.11:g.97879632dupG
CLNSRC
CLNACC RCV000409572.1,