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rs104886457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of Fanconi anemia allele
(T;T) 5 Fanconi Anemia
ReferenceGRCh38 38.1/141
Chromosome9
Position95101742
GeneFANCC
is asnp
is mentioned by
dbSNPrs104886457
ebirs104886457
HLIrs104886457
Exacrs104886457
Varsomers104886457
Maprs104886457
PheGenIrs104886457
hapmaprs104886457
1000 genomesrs104886457
hgdprs104886457
ensemblrs104886457
gopubmedrs104886457
geneviewrs104886457
scholarrs104886457
googlers104886457
pharmgkbrs104886457
gwascentralrs104886457
openSNPrs104886457
23andMers104886457
23andMe allrs104886457
SNP Nexus

SNPshotrs104886457
SNPdbers104886457
MSV3drs104886457
GWAS Ctlgrs104886457
Max Magnitude5

rs104886457, also known as R548* or R548X, is a SNP in the Fanconi anemia, complementation group C FANCC gene.

23andMe reports that this causative mutation for Fanconi anemia is found mainly in non-Jewish people with European ancestry. The term 23andMe uses for this SNP is i4000412.

OMIM227645
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104886457(T;T)
Alt rs104886457(T;T)
Reference rs104886457(C;C)
Significance Pathogenic
Disease Fanconi anemia not provided Fanconi anemia
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C not provided Fanconi anemia
Reversed 1
HGVS NC_000009.11:g.97864024G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012827.4, RCV000058924.2, RCV000205197.2,