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rs1057519295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519295(G;G)
Make rs1057519295(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110746297
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057519295
dbSNP (old)rs1057519295
ClinGenrs1057519295
ebirs1057519295
HLIrs1057519295
Exacrs1057519295
Gnomadrs1057519295
Varsomers1057519295
LitVarrs1057519295
Maprs1057519295
PheGenIrs1057519295
Biobankrs1057519295
1000 genomesrs1057519295
hgdprs1057519295
ensemblrs1057519295
gopubmedrs1057519295
geneviewrs1057519295
scholarrs1057519295
googlers1057519295
pharmgkbrs1057519295
gwascentralrs1057519295
openSNPrs1057519295
23andMers1057519295
23andMe allrs1057519295
SNPshotrs1057519295
SNPdbers1057519295
MSV3drs1057519295
GWAS Ctlgrs1057519295
Max Magnitude0
ClinVar
Risk rs1057519295(G;G)
Alt rs1057519295(G;G)
Reference Rs1057519295(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.110081998T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415596.1,