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rs1057519296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519296(C;T)
Make rs1057519296(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110746309
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057519296
dbSNP (old)rs1057519296
ClinGenrs1057519296
ebirs1057519296
HLIrs1057519296
Exacrs1057519296
Gnomadrs1057519296
Varsomers1057519296
Maprs1057519296
PheGenIrs1057519296
Biobankrs1057519296
1000 genomesrs1057519296
hgdprs1057519296
ensemblrs1057519296
gopubmedrs1057519296
geneviewrs1057519296
scholarrs1057519296
googlers1057519296
pharmgkbrs1057519296
gwascentralrs1057519296
openSNPrs1057519296
23andMers1057519296
23andMe allrs1057519296
SNPshotrs1057519296
SNPdbers1057519296
MSV3drs1057519296
GWAS Ctlgrs1057519296
Max Magnitude0
ClinVar
Risk rs1057519296(T;T)
Alt rs1057519296(T;T)
Reference Rs1057519296(C;C)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SLC25A46
CLNDBN NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed 0
HGVS NC_000005.9:g.110082010C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415525.1,