Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
22668 | deletion | SUMO1, DEL | -1 | MedGen:C1866070,OMIM:613705 | na | -1 | -1 | na | na |
283984 | single nucleotide variant | NM_001005781.1(SUMO1):c.*275A>G | 886055457 | MedGen:CN239161 | 2 | 202206529 | 202206529 | T | C |
283984 | single nucleotide variant | NM_001005781.1(SUMO1):c.*275A>G | 886055457 | MedGen:CN239161 | 2 | 203071252 | 203071252 | T | C |
283985 | deletion | NM_001005781.1(SUMO1):c.88-17_88-11delCTTTTTT | 3835911 | MedGen:CN239161 | 2 | 203079168 | 203079174 | AAAAAAG | - |
283985 | deletion | NM_001005781.1(SUMO1):c.88-17_88-11delCTTTTTT | 3835911 | MedGen:CN239161 | 2 | 202214445 | 202214451 | AAAAAAG | - |
283986 | single nucleotide variant | NM_001005781.1(SUMO1):c.-32T>G | 182338962 | MedGen:CN239161 | 2 | 202238483 | 202238483 | A | C |
283986 | single nucleotide variant | NM_001005781.1(SUMO1):c.-32T>G | 182338962 | MedGen:CN239161 | 2 | 203103206 | 203103206 | A | C |
284744 | single nucleotide variant | NM_001005781.1(SUMO1):c.*495G>C | 537401465 | MedGen:CN239161 | 2 | 202206309 | 202206309 | C | G |
284744 | single nucleotide variant | NM_001005781.1(SUMO1):c.*495G>C | 537401465 | MedGen:CN239161 | 2 | 203071032 | 203071032 | C | G |
284747 | single nucleotide variant | NM_001005781.1(SUMO1):c.*435A>G | 555380378 | MedGen:CN239161 | 2 | 202206369 | 202206369 | T | C |
284747 | single nucleotide variant | NM_001005781.1(SUMO1):c.*435A>G | 555380378 | MedGen:CN239161 | 2 | 203071092 | 203071092 | T | C |
284753 | single nucleotide variant | NM_001005781.1(SUMO1):c.*96G>T | 747664973 | MedGen:CN239161 | 2 | 202206708 | 202206708 | C | A |
284753 | single nucleotide variant | NM_001005781.1(SUMO1):c.*96G>T | 747664973 | MedGen:CN239161 | 2 | 203071431 | 203071431 | C | A |
287112 | single nucleotide variant | NM_001005781.1(SUMO1):c.*26A>G | 754482827 | MedGen:CN239161 | 2 | 202206778 | 202206778 | T | C |
287112 | single nucleotide variant | NM_001005781.1(SUMO1):c.*26A>G | 754482827 | MedGen:CN239161 | 2 | 203071501 | 203071501 | T | C |