Gene entry
ABCC9
ATP binding cassette subfamily C member 9
- Chromosome
- 12
- Cytoband
- 12p12.1
- Variants (rsID)
- 121
ABCC9 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p12.1). Its official name is “ATP binding cassette subfamily C member 9”. The reference table lists 121 variants (rsID) for this gene.
Clinically classified variants
25 reference-table entries with clinical significance.
- rs10770865Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type|Cardiomyopathy
- rs139408145Benignsingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1O|Cardiovascular phenotype|Hypertrichotic osteochondrodysplasia Cantu type
- rs2277405Benignsingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type
- rs2307024Benignsingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type
- rs61926078Benignsingle nucleotide variantCardiomyopathy|Hypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O
- rs113542001Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Cardiomyopathy
- rs141025897Conflicting interpretationssingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O|Cardiovascular phenotype|Cardiomyopathy
- rs141281214Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1O|ABCC9-Related Disorders|Cardiomyopathy
- rs143346402Conflicting interpretationssingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1O
- rs150036969Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Cardiovascular phenotype|Cardiomyopathy|Conduction disorder of the heart|Hypertrichotic osteochondrodysplasia Cantu type
- rs184123387Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type
- rs193922683Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1O
- rs201279882Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type|Arrhythmogenic right ventricular cardiomyopathy
- rs2291550Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type
- rs369830406Conflicting interpretationssingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O
- rs377384557Conflicting interpretationssingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O|Cardiovascular phenotype|Cardiomyopathy
- rs535477725Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type
- rs72559432Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type
- rs387907208Pathogenicsingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O|15 conditions
- rs387907209Pathogenicsingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O
- rs17846788Uncertain significancesingle nucleotide variantHypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O
- rs183603557Uncertain significancesingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1O
- rs200723629Uncertain significancesingle nucleotide variantPrimary familial dilated cardiomyopathy
- rs202103893Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1O
- rs397517184Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1O
Other listed variants
- rs704178
- rs704179
- rs704193
- rs704196
- rs704197
- rs704207
- rs704212
- rs704213
- rs704214
- rs704215
- rs704218
- rs829070
- rs829074
- rs1283796
- rs1283802
- rs1283807
- rs1283809
- rs1283817
- rs1356368
- rs1517276
- rs1517284
- rs2032775
- rs2418021
- rs2544443
- rs4148650
- rs4148654
- rs4148660
- rs4148663
- rs4148669
- rs7137730
- rs7309274
- rs7316271
- rs7979299
- rs10743427
- rs10770872
- rs11046202
- rs11046205
- rs11046211
- rs11046217
- rs11046234
- rs11046238
- rs12230539
- rs12425757
- rs16924332
- rs17631144
- rs17846773
- rs56298719
- rs58246522
- rs61921468
- rs71530935
- rs73074912
- rs74067884
- rs74914122
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.