SNORD118 Chromosome 17
Small nucleolar RNA, C/D box 118
Upload your DNA to see your personal genotypes for variants in SNORD118.
What This Gene Does
Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Small nucleolar RNAs, C/D box
Locus Type
RNA, small nucleolar
Location
17p13.1
Ensembl
ENSG00000200463
Associated Conditions (3)
Leukoencephalopathy with calcifications and cysts
TMEM107-related disorder
Meckel-Gruber syndrome
Key Variants
RS201686383
Conflicting classifications of pathogenicity
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS201690858
Conflicting classifications of pathogenicity
Health Risk
RS368022715
Conflicting classifications of pathogenicity
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS551698259
Conflicting classifications of pathogenicity
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS772667974
Conflicting classifications of pathogenicity
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS77558339
Conflicting classifications of pathogenicity
Health Risk
RS78363053
Conflicting classifications of pathogenicity
Health Risk
RS116395281
Likely pathogenic
Leukoencephalopathy with calcifications and cysts, TMEM107-related disorder, Meckel-Gruber syndrome
Health Risk
RS1167153704
Pathogenic
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS117735243
Pathogenic
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS1555525654
Pathogenic
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
RS1977096738
Pathogenic
Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201686383 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS201690858 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368022715 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS551698259 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS772667974 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS77558339 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78363053 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS116395281 | Health Risk | Likely pathogenic | Leukoencephalopathy with calcifications and cysts, TMEM107-related disorder, Meckel-Gruber syndrome |
| RS1167153704 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS117735243 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1555525654 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1977096738 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1977098048 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1983743862 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS1983820983 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS200458465 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS368446612 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS746503581 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS752108301 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS754582308 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS754874209 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS757122064 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS757706428 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS775673578 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS780396107 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS886039783 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS886039784 | Health Risk | Pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS201558321 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |
| RS75008470 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts |