Disease associated variation - ClinVar | Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate | 171317 | single nucleotide variant | NM_032236.6(USP48):c.1243A>G (p.Met415Val) | 193921025 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 1 | 21729761 | 21729761 | T | C | 171317 | single nucleotide variant | NM_032236.6(USP48):c.1243A>G (p.Met415Val) | 193921025 | MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 | 1 | 22056254 | 22056254 | T | C | |
Disease associated variation - GWASdb | Chr | Pos | SNP ID(dbSNP 142) | Ref | Alt | Ori SNP ID | P-value | Drug Name | Drug Anno | GWAS Trait | HPO ID | DO ID | AA | Type | Trait or Drug | 1 | 22040294 | rs333188 | T | C | rs333188 | 9.43E-05 | | | Non-alcoholic fatty liver disease histology (other) | HPOID:0001397|HPOID:0006561 | DOID:9452 | A | intron | GWASdb_trait | 1 | 22052387 | rs7554400 | T | C | rs7554400 | 1.58E-05 | | | Cognitive performance | HPOID:0100543 | DOID:1561 | T | intron | GWASdb_trait | 1 | 22055917 | rs6664218 | A | G | rs6664218 | 1.29E-05 | | | Cognitive performance | HPOID:0100543 | DOID:1561 | G | intron | GWASdb_trait | 1 | 22080775 | rs333204 | A | G | rs333204 | 3.00E-05 | | | Cognitive performance | HPOID:0100543 | DOID:1561 | T | intron | GWASdb_trait | 1 | 22081011 | rs541552 | T | C | rs541552 | 3.00E-05 | | | Cognitive performance | HPOID:0100543 | DOID:1561 | G | intron | GWASdb_trait | 1 | 22088841 | rs6667223 | G | A | rs6667223 | 3.74E-05 | | | Lymphocyte counts | HPOID:0004332|HPOID:0002665 | DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 | G | intron | GWASdb_trait | |
Disease associated variation - GWAS Central | Study Name | Source Marker Accession | Chromosome | Marker Start | Marker Stop | Alleles | Gene Section | P-value | -log(p-value) | GWAS of prostate cancer | rs333188 | 1 | 22040294 | 22040294 | | intronic | 0.821517 | 0.08538344509586769 | GWAS of prostate cancer | rs829396 | 1 | 22003793 | 22003793 | | downstream | 0.736462 | 0.13284965698981102 | GWAS of prostate cancer | rs6667223 | 1 | 22088841 | 22088841 | | intronic | 0.699019 | 0.155511019557592 | GWAS of prostate cancer | rs3767133 | 1 | 22020152 | 22020152 | | intronic | 0.648905 | 0.18781887946423298 | GWAS of prostate cancer | rs884726 | 1 | 22110418 | 22110418 | | upstream | 0.618707 | 0.208514970380232 | GWAS of prostate cancer | rs7554400 | 1 | 22052387 | 22052387 | | intronic | 0.603187 | 0.219548027034012 | GWAS of prostate cancer | rs6664218 | 1 | 22055917 | 22055917 | | intronic | 0.599487 | 0.222220230228985 | GWAS of prostate cancer | rs9970501 | 1 | 22106775 | 22106775 | | intronic | 0.554185 | 0.25634523334518 | GWAS of prostate cancer | rs17457434 | 1 | 22020194 | 22020194 | | intronic | 0.474375 | 0.32387820676044404 | GWAS of prostate cancer | rs829420 | 1 | 22013561 | 22013561 | | intronic | 0.380659 | 0.419463897634415 | GWAS of prostate cancer | rs1018102 | 1 | 22041073 | 22041073 | | intronic | 0.202263 | 0.6940835555163111 | GWAS of prostate cancer | rs829372 | 1 | 22030189 | 22030189 | | intronic | 0.19809 | 0.703137448007327 | GWAS of prostate cancer | rs333170 | 1 | 22033944 | 22033944 | | intronic | 0.183558 | 0.736226682910783 | GWAS of prostate cancer | rs333204 | 1 | 22080775 | 22080775 | | intronic | 0.167189 | 0.776792299842301 | GWAS of prostate cancer | rs541552 | 1 | 22081011 | 22081011 | | intronic | 0.167189 | 0.776792299842301 | GWAS of prostate cancer | rs12404648 | 1 | 22008798 | 22008798 | | intronic | 0.092875 | 1.03210117323137 | GWAS of prostate cancer | rs3767132 | 1 | 22006721 | 22006721 | | intronic | 0.012356 | 1.90812210037059 | |