ADAR Chromosome 1
Adenosine deaminase RNA specific
Upload your DNA to see your personal genotypes for variants in ADAR.
What This Gene Does
This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Adenosine deaminases acting on RNA
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000160710
Associated Conditions (17)
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Aicardi Goutieres syndrome
ADAR-related disorder
ADAR-related type 1 interferonopathy
Gastric cancer
Hepatocellular carcinoma
Familial pancreatic carcinoma
Acute myeloid leukemia
Familial cancer of breast
Intellectual disability
Ovarian serous cystadenocarcinoma
Leukodystrophy
Adult-Onset
Cerebral calcification
Colorectal cancer
Key Variants
RS1044845711
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Inborn genetic diseases
Health Risk
RS1064796761
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS1190740301
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS1366641379
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS139471471
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Inborn genetic diseases
Health Risk
RS145588689
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi Goutieres syndrome
Health Risk
RS145851568
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS151241634
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS1571063283
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS1696928206
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
Health Risk
RS17843866
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Gastric cancer
Health Risk
RS190881240
Conflicting classifications of pathogenicity
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Familial pancreatic carcinoma
Health Risk
All Variants (124)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2101563488 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS2101579172 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS2101642015 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS2526449847 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS2526465386 | Health Risk | Likely pathogenic | — |
| RS2526494665 | Health Risk | Likely pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526606588 | Health Risk | Likely pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526615034 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS2526644607 | Health Risk | Likely pathogenic | — |
| RS2526646459 | Health Risk | Likely pathogenic | ADAR-related disorder, ADAR-related disorder |
| RS398122822 | Health Risk | Likely pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Leukodystrophy |
| RS1064793987 | Health Risk | Pathogenic | — |
| RS1064794324 | Health Risk | Pathogenic | — |
| RS1180888940 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Cerebral calcification, Aicardi-Goutieres syndrome 6 |
| RS1185518625 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS121912421 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS121912422 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities |
| RS121912423 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities |
| RS1226569632 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1322905273 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS1349262891 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1349346463 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1364222107 | Health Risk | Pathogenic | ADAR-related disorder, ADAR-related disorder |
| RS1378400148 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1553211449 | Health Risk | Pathogenic | — |
| RS1553212090 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1557863734 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1571089005 | Health Risk | Pathogenic | — |
| RS1571110353 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities |
| RS1696721808 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS1696919284 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1697611007 | Health Risk | Pathogenic | — |
| RS1697846493 | Health Risk | Pathogenic | — |
| RS2101565765 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS2101576292 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2101588892 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2101589045 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2101619771 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2101641171 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS2101641985 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2101644365 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS2101645916 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526449355 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS2526450124 | Health Risk | Pathogenic | — |
| RS2526514076 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526514177 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526606398 | Health Risk | Pathogenic | — |
| RS2526612634 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526645023 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |
| RS2526646702 | Health Risk | Pathogenic | Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities |