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rs864309709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309709(A;G)
Make rs864309709(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149063022
GeneLOC255187, MIR584, SH3TC2
is asnp
is mentioned by
dbSNPrs864309709
dbSNP (classic)rs864309709
ClinGenrs864309709
ebirs864309709
HLIrs864309709
Exacrs864309709
Gnomadrs864309709
Varsomers864309709
LitVarrs864309709
Maprs864309709
PheGenIrs864309709
Biobankrs864309709
1000 genomesrs864309709
hgdprs864309709
ensemblrs864309709
geneviewrs864309709
scholarrs864309709
googlers864309709
pharmgkbrs864309709
gwascentralrs864309709
openSNPrs864309709
23andMers864309709
SNPshotrs864309709
SNPdbers864309709
MSV3drs864309709
GWAS Ctlgrs864309709
Max Magnitude0
ClinVar
Risk rs864309709(C;C) rs864309709(G;G)
Alt rs864309709(C;C) rs864309709(G;G)
Reference Rs864309709(A;A)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2 MIR584 LOC255187
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148442585T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000203275.1,