Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 201007 single nucleotide variant NM_018359.3(UFSP2):c.868T>C (p.Tyr290His) 796052130 Gene:50947,MedGen:C1840572,OMIM:142669,Orphanet:ORPHA2114 4 186329553 186329553 A G 201007 single nucleotide variant NM_018359.3(UFSP2):c.868T>C (p.Tyr290His) 796052130 Gene:50947,MedGen:C1840572,OMIM:142669,Orphanet:ORPHA2114 4 185408399 185408399 A G 226646 single nucleotide variant NM_018359.3(UFSP2):c.1373A>G (p.Tyr458Cys) 544351411 MedGen:CN235864 4 186321583 186321583 T C 226646 single nucleotide variant NM_018359.3(UFSP2):c.1373A>G (p.Tyr458Cys) 544351411 MedGen:CN235864 4 185400429 185400429 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 4 186321447 rs3733646 C G rs3733646 5.40E-06 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G UTR-3 GWASdb_trait 4 186336583 rs10032989 G A rs10032989 8.22E-05 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 4 186346239 rs2028701 C A rs2028701 1.76E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000109775.10 UFSP2 611482