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rs1057519416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519416(-;C)
Make rs1057519416(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position110739285
GeneSLC25A46, TMEM232
is asnp
is mentioned by
dbSNPrs1057519416
dbSNP (classic)rs1057519416
ClinGenrs1057519416
ebirs1057519416
HLIrs1057519416
Exacrs1057519416
Gnomadrs1057519416
Varsomers1057519416
LitVarrs1057519416
Maprs1057519416
PheGenIrs1057519416
Biobankrs1057519416
1000 genomesrs1057519416
hgdprs1057519416
ensemblrs1057519416
geneviewrs1057519416
scholarrs1057519416
googlers1057519416
pharmgkbrs1057519416
gwascentralrs1057519416
openSNPrs1057519416
23andMers1057519416
23andMe allrs1057519416
SNPshotrs1057519416
SNPdbers1057519416
MSV3drs1057519416
GWAS Ctlgrs1057519416
Max Magnitude0
ClinVar
Risk rs1057519416(C;C)
Alt rs1057519416(C;C)
Reference Rs1057519416(-;-)
Significance Pathogenic
Disease NEUROPATHY
Variation info
Gene SLC25A46
CLNDBN NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed 0
HGVS NC_000005.9:g.110074986dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000412574.2,