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rs1057518748

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518748(A;T)
Make rs1057518748(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110761530
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057518748
dbSNP (old)rs1057518748
ClinGenrs1057518748
ebirs1057518748
HLIrs1057518748
Exacrs1057518748
Gnomadrs1057518748
Varsomers1057518748
Maprs1057518748
PheGenIrs1057518748
Biobankrs1057518748
1000 genomesrs1057518748
hgdprs1057518748
ensemblrs1057518748
gopubmedrs1057518748
geneviewrs1057518748
scholarrs1057518748
googlers1057518748
pharmgkbrs1057518748
gwascentralrs1057518748
openSNPrs1057518748
23andMers1057518748
23andMe allrs1057518748
SNPshotrs1057518748
SNPdbers1057518748
MSV3drs1057518748
GWAS Ctlgrs1057518748
Max Magnitude0
ClinVar
Risk rs1057518748(T;T)
Alt rs1057518748(T;T)
Reference Rs1057518748(A;A)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SLC25A46
CLNDBN NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed 0
HGVS NC_000005.9:g.110097230A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412520.1,