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rs1057516430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516430(C;T)
Make rs1057516430(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position89811060
GeneFANCA
is asnp
is mentioned by
dbSNPrs1057516430
dbSNP (old)rs1057516430
ClinGenrs1057516430
ebirs1057516430
HLIrs1057516430
Exacrs1057516430
Gnomadrs1057516430
Varsomers1057516430
Maprs1057516430
PheGenIrs1057516430
Biobankrs1057516430
1000 genomesrs1057516430
hgdprs1057516430
ensemblrs1057516430
gopubmedrs1057516430
geneviewrs1057516430
scholarrs1057516430
googlers1057516430
pharmgkbrs1057516430
gwascentralrs1057516430
openSNPrs1057516430
23andMers1057516430
23andMe allrs1057516430
SNPshotrs1057516430
SNPdbers1057516430
MSV3drs1057516430
GWAS Ctlgrs1057516430
Max Magnitude0
ClinVar
Risk rs1057516430(T;T)
Alt rs1057516430(T;T)
Reference Rs1057516430(C;C)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene FANCA
CLNDBN Fanconi anemia, complementation group A
Reversed 1
HGVS NC_000016.9:g.89877468G>A
CLNSRC
CLNACC RCV000409455.1,