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rs864622663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864622663(C;T)
Make rs864622663(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149047930
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs864622663
dbSNP (classic)rs864622663
ClinGenrs864622663
ebirs864622663
HLIrs864622663
Exacrs864622663
Gnomadrs864622663
Varsomers864622663
LitVarrs864622663
Maprs864622663
PheGenIrs864622663
Biobankrs864622663
1000 genomesrs864622663
hgdprs864622663
ensemblrs864622663
geneviewrs864622663
scholarrs864622663
googlers864622663
pharmgkbrs864622663
gwascentralrs864622663
openSNPrs864622663
23andMers864622663
SNPshotrs864622663
SNPdbers864622663
MSV3drs864622663
GWAS Ctlgrs864622663
Max Magnitude0
ClinVar
Risk rs864622663(T;T)
Alt rs864622663(T;T)
Reference Rs864622663(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148427493G>A
CLNSRC
CLNACC RCV000203755.1,