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rs4280262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0
Make rs4280262(A;A)
Make rs4280262(A;G)
Make rs4280262(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position11553636
GeneLITAF
is asnp
is mentioned by
dbSNPrs4280262
ebirs4280262
HLIrs4280262
Exacrs4280262
Varsomers4280262
Maprs4280262
PheGenIrs4280262
hapmaprs4280262
1000 genomesrs4280262
hgdprs4280262
ensemblrs4280262
gopubmedrs4280262
geneviewrs4280262
scholarrs4280262
googlers4280262
pharmgkbrs4280262
gwascentralrs4280262
openSNPrs4280262
23andMers4280262
23andMe allrs4280262
SNP Nexus

SNPshotrs4280262
SNPdbers4280262
MSV3drs4280262
GWAS Ctlgrs4280262
GMAF0.129
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene LITAF
allele C
frequency 0.183
sift TOLERATED
HuRef 1103645426651
Disease Association Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.



[PMID 19396477OA-icon.png] A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?


GET Evidence
LITAF-I92V
aa_change Ile92Val
aa_change_short I92V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.163599
summary