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rs755919784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs755919784(C;C)
Make rs755919784(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position13072400
GeneSPTLC3
is asnp
is mentioned by
dbSNPrs755919784
dbSNP (classic)rs755919784
ClinGenrs755919784
ebirs755919784
HLIrs755919784
Exacrs755919784
Gnomadrs755919784
Varsomers755919784
LitVarrs755919784
Maprs755919784
PheGenIrs755919784
Biobankrs755919784
1000 genomesrs755919784
hgdprs755919784
ensemblrs755919784
geneviewrs755919784
scholarrs755919784
googlers755919784
pharmgkbrs755919784
gwascentralrs755919784
openSNPrs755919784
23andMers755919784
SNPshotrs755919784
SNPdbers755919784
MSV3drs755919784
GWAS Ctlgrs755919784
Max Magnitude0
ClinVar
Risk rs755919784(C;C)
Alt rs755919784(C;C)
Reference Rs755919784(T;T)
Significance Probable-Pathogenic
Disease Peripheral neuropathy Sensory neuropathy
Variation info
Gene SPTLC3
CLNDBN Peripheral neuropathy Sensory neuropathy
Reversed 0
HGVS NC_000020.10:g.13053048T>C
CLNSRC
CLNACC RCV000235090.1,