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rs7190823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs7190823(C;C)
Make rs7190823(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89799635
GeneFANCA
is asnp
is mentioned by
dbSNPrs7190823
ebirs7190823
HLIrs7190823
Exacrs7190823
Varsomers7190823
Maprs7190823
PheGenIrs7190823
hapmaprs7190823
1000 genomesrs7190823
hgdprs7190823
ensemblrs7190823
gopubmedrs7190823
geneviewrs7190823
scholarrs7190823
googlers7190823
pharmgkbrs7190823
gwascentralrs7190823
openSNPrs7190823
23andMers7190823
23andMe allrs7190823
SNP Nexus

SNPshotrs7190823
SNPdbers7190823
MSV3drs7190823
GWAS Ctlgrs7190823
GMAF0.3425
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene FANCA
allele C
frequency 0.441
sift TOLERATED
HuRef 1103645553566
Disease Association Defects in FANCA are a cause of Fanconi anemia (FA) (MIM:227650). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.



[PMID 20386703OA-icon.png] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.


GET Evidence
FANCA-T266A
aa_change Thr266Ala
aa_change_short T266A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.507901
summary



ClinVar
Risk rs7190823(C;C)
Alt rs7190823(C;C)
Reference rs7190823(T;T)
Significance Untested
Disease not specified
Variation info
Gene FANCA
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.89866043T>C
CLNSRC ClinVar
CLNACC RCV000120967.1,