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rs4280262

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs4280262(A;G)
Make rs4280262(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position11553636
GeneLITAF
is asnp
is mentioned by
dbSNPrs4280262
dbSNP (old)rs4280262
ClinGenrs4280262
ebirs4280262
HLIrs4280262
Exacrs4280262
Gnomadrs4280262
Varsomers4280262
Maprs4280262
PheGenIrs4280262
Biobankrs4280262
1000 genomesrs4280262
hgdprs4280262
ensemblrs4280262
gopubmedrs4280262
geneviewrs4280262
scholarrs4280262
googlers4280262
pharmgkbrs4280262
gwascentralrs4280262
openSNPrs4280262
23andMers4280262
23andMe allrs4280262
SNPshotrs4280262
SNPdbers4280262
MSV3drs4280262
GWAS Ctlgrs4280262
GMAF0.129
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19396477OA-icon.png] A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?



ClinVar
Risk rs4280262(G;G)
Alt rs4280262(G;G)
Reference Rs4280262(A;A)
Significance Non-pathogenic
Disease Charcot-Marie-Tooth
Variation info
Gene LITAF
CLNDBN Charcot-Marie-Tooth, Type 1
Reversed 1
HGVS NC_000016.9:g.11647492T>C
CLNSRC
CLNACC RCV000398802.1,