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rs281865135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865135(C;T)
Make rs281865135(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position11549720
GeneLITAF
is asnp
is mentioned by
dbSNPrs281865135
ebirs281865135
HLIrs281865135
Exacrs281865135
Varsomers281865135
Maprs281865135
PheGenIrs281865135
hapmaprs281865135
1000 genomesrs281865135
hgdprs281865135
ensemblrs281865135
gopubmedrs281865135
geneviewrs281865135
scholarrs281865135
googlers281865135
pharmgkbrs281865135
gwascentralrs281865135
openSNPrs281865135
23andMers281865135
23andMe allrs281865135
SNP Nexus

SNPshotrs281865135
SNPdbers281865135
MSV3drs281865135
GWAS Ctlgrs281865135
Max Magnitude0
ClinVar
Risk rs281865135(A,T;A,T)
Alt rs281865135(A,T;A,T)
Reference rs281865135(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene LITAF
CLNDBN Charcot-Marie-Tooth disease, type 1C
Reversed 1
HGVS NC_000016.9:g.11643576G>A; NC_000016.9:g.11643576G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034130.2, RCV000034129.2,