Basic Information
Aceso App/ Crohn's disease suite / results for "Greece_1_IonXpress_026_DADC06277_TSVC.vcf"
- Job Title : 19Jan2022_06_17_48#AUA20525
- Program : Chronos WebServer
- Database : Aceso Application CD Database
- Molecule Type : STRING | VCF FILE
- Input Data : 37023
- Accepted Input Data : 35759
- Rejected Input Data : 1264
- Identified SNPs : 57
- Date of Analysis : 19Jan2022
SNPs Analysis Results for CHRON'S DISEASE
Strong-associated SNPs
High-associated SNPs
Associated SNPs
SNP | Chromosome | Position | RefGenome | Mutations | Gene | VariantType | Disease | LitVar | Class |
---|---|---|---|---|---|---|---|---|---|
rs12103 | chr1 | 1312114 | (GRCh38.p13) | T>A / T>C / T>G | INTS11 | Synonymous Variant||MIR6727|500B Downstream Variant||PUSL1|500B Downstream Variant | CrohnDisease=3 Colitis_Ulcerative=3 InflammatoryBowelDiseases=2 Isobutyryl_CoADehydrogenaseDeficiency=2 Schizophrenia=1 |
rs12103 | C |
rs1061622 | chr1 | 12192898 | (GRCh38.p13) | T>G | TNFRSF1B | Initiator Codon Variant | Arthritis_Rheumatoid=41 Neoplasms=38 Carcinoma_Non_Small_CellLung=27 DepressiveDisorder=27 LupusErythematosus_Systemic=25 |
C | |
rs7530511 | chr1 | 67219704 | (GRCh38.p13) | T>A / T>C | IL23R | Missense Variant | Psoriasis=24 CrohnDisease=11 Colitis_Ulcerative=9 CerebralHemorrhage=5 Isobutyryl_CoADehydrogenaseDeficiency=5 |
rs7530511 | B |
rs2476601 | chr1 | 113834946 | (GRCh38.p13) | A>G / A>T | PTPN22 | Missense Variant||AP4B1-AS1|Intron Variant | Arthritis_Rheumatoid=914 AutoimmuneDiseases=646 LupusErythematosus_Systemic=617 DiabetesMellitus=366 DiabetesMellitus_Type1=175 |
C | |
rs3737240 | chr1 | 150510879 | (GRCh38.p13) | C>A / C>T | ECM1 | Missense Variant | Colitis_Ulcerative=4 CrohnDisease=3 InflammatoryBowelDiseases=2 Isobutyryl_CoADehydrogenaseDeficiency=1 |
rs3737240 | C |
rs13294 | chr1 | 150512511 | (GRCh38.p13) | G>A / G>T | ECM1 | Missense Variant | CrohnDisease=3 Colitis_Ulcerative=3 InflammatoryBowelDiseases=2 Isobutyryl_CoADehydrogenaseDeficiency=1 |
rs13294 | C |
rs2274910 | chr1 | 160882256 | (GRCh38.p13) | T>A / T>C | ITLN1 | Intron Variant | InflammatoryBowelDiseases=4 CrohnDisease=4 Colitis_Ulcerative=3 ZellwegerSyndrome=2 Arthritis_Rheumatoid=2 |
rs2274910 | C |
rs5744174 | chr1 | 223111186 | (GRCh38.p13) | A>G | TLR5 | Missense Variant | Bronchiolitis=27 HelicobacterInfections=11 Asthma=9 HepatitisB=8 Stroke=6 |
C | |
rs11706052 | chr3 | 49026677 | (GRCh38.p13) | A>G | IMPDH2 | Intron Variant | GraftVsHostDisease=3 Neutropenia=3 BoneMarrowDiseases=3 KidneyDiseases=2 CytomegalovirusInfections=1 |
C | |
rs9858542 | chr3 | 49664550 | (GRCh38.p13) | G>A | BSN | Synonymous Variant | Arthritis_Rheumatoid=4 CrohnDisease=3 Isobutyryl_CoADehydrogenaseDeficiency=2 Colitis_Ulcerative=2 Schizophrenia=2 |
rs9858542 | C |
rs3197999 | chr3 | 49684099 | (GRCh38.p13) | G>A / G>T | MST1 | Missense Variant||APEH|500B Downstream Variant | CrohnDisease=22 InflammatoryBowelDiseases=16 Isobutyryl_CoADehydrogenaseDeficiency=9 Colitis_Ulcerative=8 LupusErythematosus_Systemic=6 |
rs3197999 | A |
rs2276707 | chr3 | 119815306 | (GRCh38.p13) | C>G / C>T | NR1I2 | Intron Variant | Neoplasms=5 BreastNeoplasms=5 Colitis_Ulcerative=3 ColorectalNeoplasms=3 LungNeoplasms=3 |
C | |
rs30187 | chr5 | 96788627 | (GRCh38.p13) | T>A / T>C | ERAP1 | Missense Variant | Spondylitis_Ankylosing=38 Psoriasis=31 BehcetSyndrome=29 MultipleSclerosis=23 Hypertension=16 |
C | |
rs2248374 | chr5 | 96900192 | (GRCh38.p13) | A>G | ERAP2 | Non Coding Transcript Variant||ERAP1|Intron Variant | Carcinoma_Non_Small_CellLung=6 Psoriasis=5 Spondylitis_Ankylosing=4 Arthritis_Psoriatic=2 CrohnDisease=2 |
rs2248374 | C |
rs272893 | chr5 | 132327369 | (GRCh38.p13) | T>C / T>G | SLC22A4 | Missense Variant||MIR3936HG|Intron Variant | SandhoffDisease=11 DiabetesMellitus_Type2=4 DiabetesMellitus=4 Isobutyryl_CoADehydrogenaseDeficiency=1 IntervertebralDiscDegeneration=1 |
C | |
rs180802994 | chr5 | 150848174 | (GRCh38.p13) | G>A / G>C / G>T | IRGM | Missense Variant | CrohnDisease=4 Colitis_Ulcerative=2 |
rs180802994 | C |
rs72553867 | chr5 | 150848404 | (GRCh38.p13) | C>A / C>T | IRGM | Missense Variant | CrohnDisease=4 LupusErythematosus_Systemic=1 Charcot_Marie_ToothDisease_Type1D=1 Tuberculosis=1 GeneticDiseases_Inborn=1 |
rs72553867 | C |
rs10065172 | chr5 | 150848436 | (GRCh38.p13) | C>A / C>T | IRGM | Missense Variant | CrohnDisease=18 GaucherDisease=14 Tuberculosis=6 Hypertension=5 Tuberculosis_Meningeal=4 |
rs10065172 | A |
rs3208181 | chr6 | 32745253 | (GRCh38.p13) | T>C | HLA-DQA2 | Synonymous Variant | C | ||
rs2075820 | chr7 | 30452621 | (GRCh38.p13) | C>T | NOD1 | Missense Variant | CrohnDisease=11 HelicobacterInfections=5 ColorectalNeoplasms=4 Asthma=2 Inflammation=2 |
rs2075820 | B |
rs2072183 | chr7 | 44539581 | (GRCh38.p13) | G>A / G>C / G>T | NPC1L1 | Synonymous Variant | Gallstones=12 AdenomatousPolyposisColi=10 Dyslipidemias=6 CoronaryDisease=3 SandhoffDisease=2 |
C | |
rs1045642 | chr7 | 87509329 | (GRCh38.p13) | A>C / A>G / A>T | ABCB1 | Missense Variant | Epilepsy=413 BreastNeoplasms=355 Neoplasms=224 Drug_RelatedSideEffectsAndAdverseReactions=198 ColorectalNeoplasms=174 |
C | |
rs1128503 | chr7 | 87550285 | (GRCh38.p13) | A>G | ABCB1 | Synonymous Variant | Drug_RelatedSideEffectsAndAdverseReactions=76 Neoplasms=64 BreastNeoplasms=52 Epilepsy=49 AtaxiaTelangiectasia=45 |
C | |
rs1800972 | chr8 | 6877901 | (GRCh38.p13) | C>G / C>T | DEFB1 | 5 Prime UTR Variant | Gastritis=13 DiabetesMellitus=12 Periodontitis=11 ChronicPeriodontitis=8 HIVInfections=8 |
C | |
rs1799946 | chr8 | 6877909 | (GRCh38.p13) | C>T | DEFB1 | 5 Prime UTR Variant | Gastritis=18 Isobutyryl_CoADehydrogenaseDeficiency=9 Periodontitis=7 HepatolenticularDegeneration=7 HIVInfections=6 |
C | |
rs3810936 | chr9 | 114790605 | (GRCh38.p13) | T>C | TNFSF15 | Synonymous Variant | LupusErythematosus_Systemic=9 Isobutyryl_CoADehydrogenaseDeficiency=6 GravesDisease=6 CrohnDisease=5 GravesOphthalmopathy=5 |
rs3810936 | B |
rs10781499 | chr9 | 136371953 | (GRCh38.p13) | G>A | CARD9 | Synonymous Variant | Isobutyryl_CoADehydrogenaseDeficiency=7 Tuberculosis_Pulmonary=6 CrohnDisease=5 Colitis_Ulcerative=5 LupusErythematosus_Systemic=3 |
rs10781499 | C |
rs4077515 | chr9 | 136372044 | (GRCh38.p13) | C>A / C>T | CARD9 | Missense Variant | CrohnDisease=15 Colitis_Ulcerative=14 LupusErythematosus_Systemic=9 DiabetesMellitus=7 LiverCirrhosis_Biliary=7 |
rs4077515 | C |
rs2236379 | chr10 | 6485181 | (GRCh38.p13) | G>A / G>C | PRKCQ | Missense Variant | CrohnDisease=1 | rs2236379 | C |
rs1042058 | chr10 | 30439172 | (GRCh38.p13) | T>C | MAP3K8 | Synonymous Variant | CrohnDisease=10 Keratitis_Dendritic=1 Colitis=1 Isobutyryl_CoADehydrogenaseDeficiency=1 |
rs1042058 | B |
rs7076156 | chr10 | 62655424 | (GRCh38.p13) | A>C / A>G / A>T | LOC105378327 | Splice Donor Variant | Nephrolithiasis=8 DiabetesMellitus=7 AutoimmuneDiseases=4 AlzheimerDisease=4 CrohnDisease=4 |
rs7076156 | C |
rs2289311 | chr10 | 77805897 | (GRCh38.p13) | G>A / G>C / G>T | DLG5 | Intron Variant | InflammatoryBowelDiseases=1 Neoplasms=1 Necrosis=1 FragileXSyndrome=1 Isobutyryl_CoADehydrogenaseDeficiency=1 |
C | |
rs1248696 | chr10 | 77856847 | (GRCh38.p13) | T>A / T>C / T>G | DLG5 | Missense Variant | Isobutyryl_CoADehydrogenaseDeficiency=35 CrohnDisease=31 InflammatoryBowelDiseases=31 Colitis_Ulcerative=5 CeliacDisease=2 |
rs1248696 | A |
rs2243639 | chr10 | 79941966 | (GRCh38.p13) | T>C / T>G | SFTPD | Missense Variant | Isobutyryl_CoADehydrogenaseDeficiency=12 PulmonaryDisease_ChronicObstructive=9 Colitis_Ulcerative=3 BronchopulmonaryDysplasia=3 InflammatoryBowelDiseases=2 |
C | |
rs1051992 | chr11 | 6319476 | (GRCh38.p13) | A>G / A>T | CAVIN3 | Missense Variant||LOC101927825|Non Coding Transcript Variant | CrohnDisease=2 Colitis_Ulcerative=2 EndometrialNeoplasms=2 AdenomatousPolyposisColi=1 |
rs1051992 | C |
rs767455 | chr12 | 6341779 | (GRCh38.p13) | T>C | TNFRSF1A | Synonymous Variant | Arthritis_Rheumatoid=10 Neoplasms=7 BreastNeoplasms=7 Infections=5 HeartDiseases=4 |
C | |
rs3764021 | chr12 | 9681032 | (GRCh38.p13) | C>G / C>T | CLEC2D | Missense Variant | Colitis_Ulcerative=5 LiverCirrhosis_Biliary=5 CrohnDisease=3 DiabetesMellitus_Type2=3 DiabetesMellitus=3 |
rs3764021 | C |
rs3761863 | chr12 | 40364850 | (GRCh38.p13) | T>C | LRRK2 | Missense Variant||LOC105369736|Intron Variant | ParkinsonDisease=11 CrohnDisease=7 AlzheimerDisease=5 SupranuclearPalsy_Progressive=4 ZAP70Deficiency=4 |
rs3761863 | B |
rs2228226 | chr12 | 57472038 | (GRCh38.p13) | G>C | GLI1 | Missense Variant||ARHGAP9|500B Downstream Variant | InflammatoryBowelDiseases=3 Glioma=3 KidneyDiseases=1 DiabetesMellitus=1 CrohnDisease=1 |
rs2228226 | C |
rs2076753 | chr16 | 50699463 | (GRCh38.p13) | G>A / G>T | NOD2 | Intron Variant | CrohnDisease=3 Colitis_Ulcerative=2 Uveitis=2 PulmonaryDisease_ChronicObstructive=2 Arthritis_Psoriatic=2 |
rs2076753 | C |
rs2067085 | chr16 | 50699948 | (GRCh38.p13) | C>A / C>G | NOD2 | Synonymous Variant | Colitis_Ulcerative=3 CrohnDisease=3 Uveitis=3 Meningitis=2 PulmonaryDisease_ChronicObstructive=2 |
rs2067085 | C |
rs2066842 | chr16 | 50710713 | (GRCh38.p13) | C>A / C>T | NOD2 | Missense Variant | ParkinsonDisease=26 CrohnDisease=21 Neoplasms=21 Uveitis=11 Colitis_Ulcerative=7 |
rs2066842 | A |
rs2066843 | chr16 | 50711288 | (GRCh38.p13) | C>A / C>T | NOD2 | Synonymous Variant | CrohnDisease=16 Colitis_Ulcerative=6 Uveitis=4 PulmonaryDisease_ChronicObstructive=3 Arthritis_Psoriatic=3 |
rs2066843 | B |
rs1861759 | chr16 | 50711672 | (GRCh38.p13) | T>G | NOD2 | Synonymous Variant | Arthritis_Psoriatic=5 CrohnDisease=4 Uveitis=4 Sarcoidosis=4 Colitis_Ulcerative=3 |
rs1861759 | C |
rs5743291 | chr16 | 50723365 | (GRCh38.p13) | G>A | NOD2 | Missense Variant | CrohnDisease=5 Uveitis=4 Sarcoidosis=4 Colitis_Ulcerative=3 PulmonaryDisease_ChronicObstructive=3 |
rs5743291 | A |
rs1077861 | chr16 | 50725636 | (GRCh38.p13) | A>C / A>T | NOD2 | Intron Variant | Asthma=6 CrohnDisease=2 Colitis_Ulcerative=1 Uveitis=1 PulmonaryDisease_ChronicObstructive=1 |
rs1077861 | C |
rs2277680 | chr17 | 4735268 | (GRCh38.p13) | G>A | CXCL16 | Missense Variant | HepatitisB=7 CrohnDisease=2 LiverFailure_Acute=2 HamartomaSyndrome_Multiple=1 InflammatoryBowelDiseases=1 |
rs2277680 | C |
rs3894326 | chr19 | 5843773 | (GRCh38.p13) | A>C / A>T | FUT3 | Missense Variant | GeneticDiseases_Inborn=4 LungDiseases=3 Colitis=1 HeredodegenerativeDisorders_NervousSystem=1 IgADeficiency=1 |
C | |
rs28362459 | chr19 | 5844781 | (GRCh38.p13) | A>C / A>G / A>T | FUT3 | Missense Variant | GeneticDiseases_Inborn=4 Colitis=4 LungDiseases=3 HeredodegenerativeDisorders_NervousSystem=2 CoronaryDisease=1 |
C | |
rs280519 | chr19 | 10362257 | (GRCh38.p13) | A>C / A>G | TYK2 | Intron Variant | LupusErythematosus_Systemic=16 Colitis_Ulcerative=4 HepatitisC_Chronic=3 Sarcoma=3 BreastNeoplasms=3 |
C | |
rs280523 | chr19 | 10366530 | (GRCh38.p13) | G>A / G>C | TYK2 | Synonymous Variant | Endometriosis=2 Infertility=2 CrohnDisease=1 Colitis_Ulcerative=1 Inflammation=1 |
rs280523 | C |
rs1545620 | chr19 | 17192965 | (GRCh38.p13) | T>A / T>C / T>G | MYO9B | Missense Variant | CrohnDisease=5 Colitis_Ulcerative=3 InflammatoryBowelDiseases=3 Isobutyryl_CoADehydrogenaseDeficiency=2 HamartomaSyndrome_Multiple=2 |
rs1545620 | B |
rs492602 | chr19 | 48703160 | (GRCh38.p13) | A>G / A>T | FUT2 | Synonymous Variant||LOC105447645|Non Coding Transcript Variant | CrohnDisease=5 Neoplasms=3 Psoriasis=2 Adenoma=1 PancreaticNeoplasms=1 |
rs492602 | C |
rs601338 | chr19 | 48703417 | (GRCh38.p13) | G>A | FUT2 | Stop Gained||LOC105447645|Non Coding Transcript Variant | Infections=64 InflammatoryBowelDiseases=29 CrohnDisease=22 CeliacDisease=22 DiabetesMellitus=18 |
rs601338 | A |
rs1883832 | chr20 | 46118343 | (GRCh38.p13) | T>A / T>C / T>G | CD40 | Non Coding Transcript Variant | LupusErythematosus_Systemic=59 GravesDisease=55 Atherosclerosis=42 Arthritis_Rheumatoid=39 AcuteCoronarySyndrome=31 |
C | |
rs1801198 | chr22 | 30615623 | (GRCh38.p13) | G>A / G>C | TCN2 | Missense Variant | Neoplasms=18 AutisticDisorder=14 SpinalDysraphism=9 Carcinoma_SquamousCellOfHeadAndNeck=6 BreastNeoplasms=6 |
C | |
rs6622126 | chrX | 106956972 | (GRCh38.p13) | G>A | MORC4 | Missense Variant | ZellwegerSyndrome=3 CrohnDisease=1 |
rs6622126 | C |