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rs104886459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Fanconi anemia
(-;G) 3 carrier for Fanconi anemia allele
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome9
Position95249225
GeneFANCC
is asnp
is mentioned by
dbSNPrs104886459
ebirs104886459
HLIrs104886459
Exacrs104886459
Varsomers104886459
Maprs104886459
PheGenIrs104886459
hapmaprs104886459
1000 genomesrs104886459
hgdprs104886459
ensemblrs104886459
gopubmedrs104886459
geneviewrs104886459
scholarrs104886459
googlers104886459
pharmgkbrs104886459
gwascentralrs104886459
openSNPrs104886459
23andMers104886459
23andMe allrs104886459
SNP Nexus

SNPshotrs104886459
SNPdbers104886459
MSV3drs104886459
GWAS Ctlgrs104886459
Max Magnitude5

rs104886459, also known as 322delG, 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 i4000413.

OMIM227645
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104886459(;)
Alt rs104886459(;)
Reference rs104886459(G;G)
Significance Pathogenic
Disease Fanconi anemia not provided
Variation info
Gene FANCC
CLNDBN Fanconi anemia, complementation group C not provided
Reversed 1
HGVS NC_000009.11:g.98011507delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012829.4, RCV000058926.2,