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rs879253859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879253859(-;T)
Make rs879253859(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position149038475
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs879253859
dbSNP (classic)rs879253859
ClinGenrs879253859
ebirs879253859
HLIrs879253859
Exacrs879253859
Gnomadrs879253859
Varsomers879253859
LitVarrs879253859
Maprs879253859
PheGenIrs879253859
Biobankrs879253859
1000 genomesrs879253859
hgdprs879253859
ensemblrs879253859
geneviewrs879253859
scholarrs879253859
googlers879253859
pharmgkbrs879253859
gwascentralrs879253859
openSNPrs879253859
23andMers879253859
SNPshotrs879253859
SNPdbers879253859
MSV3drs879253859
GWAS Ctlgrs879253859
Max Magnitude0
ClinVar
Risk rs879253859(T;T)
Alt rs879253859(T;T)
Reference Rs879253859(-;-)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148418038_148418039insA
CLNSRC
CLNACC RCV000235051.1,