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rs1057518750

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518750(C;T)
Make rs1057518750(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110761523
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057518750
dbSNP (old)rs1057518750
ClinGenrs1057518750
ebirs1057518750
HLIrs1057518750
Exacrs1057518750
Gnomadrs1057518750
Varsomers1057518750
Maprs1057518750
PheGenIrs1057518750
Biobankrs1057518750
1000 genomesrs1057518750
hgdprs1057518750
ensemblrs1057518750
gopubmedrs1057518750
geneviewrs1057518750
scholarrs1057518750
googlers1057518750
pharmgkbrs1057518750
gwascentralrs1057518750
openSNPrs1057518750
23andMers1057518750
23andMe allrs1057518750
SNPshotrs1057518750
SNPdbers1057518750
MSV3drs1057518750
GWAS Ctlgrs1057518750
Max Magnitude0
ClinVar
Risk rs1057518750(T;T)
Alt rs1057518750(T;T)
Reference Rs1057518750(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.110097223C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412634.1,