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rs104886456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;T) 4 Fanconi anemia carrier
(T;T) 5 Fanconi Anemia (FANCC-related)
ReferenceGRCh38 38.1/141
Chromosome9
Position95172033
GeneFANCC
is asnp
is mentioned by
dbSNPrs104886456
ebirs104886456
HLIrs104886456
Exacrs104886456
Varsomers104886456
Maprs104886456
PheGenIrs104886456
hapmaprs104886456
1000 genomesrs104886456
hgdprs104886456
ensemblrs104886456
gopubmedrs104886456
geneviewrs104886456
scholarrs104886456
googlers104886456
pharmgkbrs104886456
gwascentralrs104886456
openSNPrs104886456
23andMers104886456
23andMe allrs104886456
SNP Nexus

SNPshotrs104886456
SNPdbers104886456
MSV3drs104886456
GWAS Ctlgrs104886456
Max Magnitude5

rs104886456, also known as IVS4+4A>T, is a SNP in the Fanconi anemia, complementation group C FANCC gene.

23andMe reports that this mutation is carried by approximately 1% of Ashkenazi Jews and is responsible for more than 99% of FANCC-related Fanconi anemia in this population. This same mutation is the most common cause of FANCC-related Fanconi anemia in Japan. The term 23andMe uses for this SNP is i4000336.

OMIM227645
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104886456(T;T)
Alt rs104886456(T;T)
Reference rs104886456(A;A)
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.97934315T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012825.5, RCV000115354.3, RCV000197192.3,