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rs587777063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777063(A;T)
Make rs587777063(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position153294460
GeneTRIM2
is asnp
is mentioned by
dbSNPrs587777063
dbSNP (classic)rs587777063
ClinGenrs587777063
ebirs587777063
HLIrs587777063
Exacrs587777063
Gnomadrs587777063
Varsomers587777063
LitVarrs587777063
Maprs587777063
PheGenIrs587777063
Biobankrs587777063
1000 genomesrs587777063
hgdprs587777063
ensemblrs587777063
geneviewrs587777063
scholarrs587777063
googlers587777063
pharmgkbrs587777063
gwascentralrs587777063
openSNPrs587777063
23andMers587777063
SNPshotrs587777063
SNPdbers587777063
MSV3drs587777063
GWAS Ctlgrs587777063
Max Magnitude0
ClinVar
Risk rs587777063(T;T)
Alt rs587777063(T;T)
Reference Rs587777063(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene TRIM2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2R
Reversed 0
HGVS NC_000004.11:g.154215612A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074302.4,