Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518749(-;TTAC)
Make rs1057518749(TTAC;TTAC)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110761410
GeneSLC25A46
is asnp
is mentioned by
dbSNPrs1057518749
dbSNP (old)rs1057518749
ClinGenrs1057518749
ebirs1057518749
HLIrs1057518749
Exacrs1057518749
Gnomadrs1057518749
Varsomers1057518749
LitVarrs1057518749
Maprs1057518749
PheGenIrs1057518749
Biobankrs1057518749
1000 genomesrs1057518749
hgdprs1057518749
ensemblrs1057518749
gopubmedrs1057518749
geneviewrs1057518749
scholarrs1057518749
googlers1057518749
pharmgkbrs1057518749
gwascentralrs1057518749
openSNPrs1057518749
23andMers1057518749
23andMe allrs1057518749
SNPshotrs1057518749
SNPdbers1057518749
MSV3drs1057518749
GWAS Ctlgrs1057518749
Max Magnitude0
ClinVar
Risk rs1057518749(ACTT;ACTT)
Alt rs1057518749(ACTT;ACTT)
Reference Rs1057518749(-;-)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SLC25A46
CLNDBN NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed 0
HGVS NC_000005.9:g.110097107_110097110dupTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000412554.1,