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rs1057519294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519294(C;C)
Make rs1057519294(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110761547
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057519294
dbSNP (classic)rs1057519294
ClinGenrs1057519294
ebirs1057519294
HLIrs1057519294
Exacrs1057519294
Gnomadrs1057519294
Varsomers1057519294
LitVarrs1057519294
Maprs1057519294
PheGenIrs1057519294
Biobankrs1057519294
1000 genomesrs1057519294
hgdprs1057519294
ensemblrs1057519294
geneviewrs1057519294
scholarrs1057519294
googlers1057519294
pharmgkbrs1057519294
gwascentralrs1057519294
openSNPrs1057519294
23andMers1057519294
23andMe allrs1057519294
SNPshotrs1057519294
SNPdbers1057519294
MSV3drs1057519294
GWAS Ctlgrs1057519294
Max Magnitude0
ClinVar
Risk rs1057519294(C;C)
Alt rs1057519294(C;C)
Reference Rs1057519294(T;T)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SLC25A46
CLNDBN NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed 0
HGVS NC_000005.9:g.110097247T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000415563.1,