Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 25715 single nucleotide variant NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp) 121918525 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53564617 53564617 G A 25715 single nucleotide variant NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp) 121918525 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53537656 53537656 G A 25716 single nucleotide variant NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His) 121918526 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53578381 53578381 C T 25716 single nucleotide variant NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His) 121918526 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53551420 53551420 C T 25717 single nucleotide variant NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) 121918527 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53562435 53562435 G A 25717 single nucleotide variant NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) 121918527 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53535474 53535474 G A 102097 single nucleotide variant NM_031407.6(HUWE1):c.12177T>C (p.Gly4059=) 426298 MedGen:CN169374 X 53563589 53563589 A G 102097 single nucleotide variant NM_031407.6(HUWE1):c.12177T>C (p.Gly4059=) 426298 MedGen:CN169374 X 53536628 53536628 A G 102098 single nucleotide variant NM_031407.6(HUWE1):c.12671C>T (p.Ala4224Val) 398124423 MedGen:CN169374 X 53561637 53561637 G A 102098 single nucleotide variant NM_031407.6(HUWE1):c.12671C>T (p.Ala4224Val) 398124423 MedGen:CN169374 X 53534676 53534676 G A 102099 deletion NM_031407.6(HUWE1):c.2198_2203delAGGAAG (p.Glu733_Glu734del) 398124424 MedGen:CN169374 X 53641553 53641558 CTTCCT - 102099 deletion NM_031407.6(HUWE1):c.2198_2203delAGGAAG (p.Glu733_Glu734del) 398124424 MedGen:CN169374 X 53614592 53614597 CTTCCT - 134695 single nucleotide variant NM_031407.6(HUWE1):c.10551G>T (p.Leu3517=) 61730217 MedGen:CN169374 X 53547758 53547758 C A 134695 single nucleotide variant NM_031407.6(HUWE1):c.10551G>T (p.Leu3517=) 61730217 MedGen:CN169374 X 53574719 53574719 C A 134690 single nucleotide variant NM_031407.6(HUWE1):c.12573C>G (p.Pro4191=) 140734968 MedGen:CN221809 X 53562421 53562421 G C 134690 single nucleotide variant NM_031407.6(HUWE1):c.12573C>G (p.Pro4191=) 140734968 MedGen:CN221809 X 53535460 53535460 G C 134691 single nucleotide variant NM_031407.6(HUWE1):c.1470A>G (p.Glu490=) 145143264 MedGen:CN169374 X 53654380 53654380 T C 134691 single nucleotide variant NM_031407.6(HUWE1):c.1470A>G (p.Glu490=) 145143264 MedGen:CN169374 X 53627429 53627429 T C 134692 single nucleotide variant NM_031407.6(HUWE1):c.4503C>T (p.Pro1501=) 144449744 MedGen:CN221809 X 53615453 53615453 G A 134692 single nucleotide variant NM_031407.6(HUWE1):c.4503C>T (p.Pro1501=) 144449744 MedGen:CN221809 X 53588493 53588493 G A 134693 single nucleotide variant NM_031407.6(HUWE1):c.8694G>A (p.Ala2898=) 61742949 MedGen:CN169374 X 53579655 53579655 C T 134693 single nucleotide variant NM_031407.6(HUWE1):c.8694G>A (p.Ala2898=) 61742949 MedGen:CN169374 X 53552694 53552694 C T 134694 single nucleotide variant NM_031407.6(HUWE1):c.10101G>A (p.Arg3367=) 41306894 MedGen:CN169374 X 53548208 53548208 C T 134694 single nucleotide variant NM_031407.6(HUWE1):c.10101G>A (p.Arg3367=) 41306894 MedGen:CN169374 X 53575169 53575169 C T 134696 single nucleotide variant NM_031407.6(HUWE1):c.12275C>A (p.Thr4092Asn) 587780358 MedGen:CN221809 X 53536530 53536530 G T 134696 single nucleotide variant NM_031407.6(HUWE1):c.12275C>A (p.Thr4092Asn) 587780358 MedGen:CN221809 X 53563491 53563491 G T 134697 single nucleotide variant NM_031407.6(HUWE1):c.12903A= (p.Thr4301=) -1 MedGen:CN169374 X 53561087 53561087 C T 134697 single nucleotide variant NM_031407.6(HUWE1):c.12903A= (p.Thr4301=) -1 MedGen:CN169374 X 53534126 53534126 T T 134698 single nucleotide variant NM_031407.6(HUWE1):c.1448A>G (p.Asn483Ser) 41307640 MedGen:CN169374 X 53627451 53627451 T C 134698 single nucleotide variant NM_031407.6(HUWE1):c.1448A>G (p.Asn483Ser) 41307640 MedGen:CN169374 X 53654402 53654402 T C 134699 single nucleotide variant NM_031407.6(HUWE1):c.2109A>G (p.Ser703=) 6638360 MedGen:CN169374 X 53614686 53614686 T C 134699 single nucleotide variant NM_031407.6(HUWE1):c.2109A>G (p.Ser703=) 6638360 MedGen:CN169374 X 53641647 53641647 T C 134700 single nucleotide variant NM_031407.6(HUWE1):c.5716+5G>A 139135300 MedGen:CN221809;MedGen:CN169374 X 53580826 53580826 C T 134700 single nucleotide variant NM_031407.6(HUWE1):c.5716+5G>A 139135300 MedGen:CN221809;MedGen:CN169374 X 53607786 53607786 C T 134701 single nucleotide variant NM_031407.6(HUWE1):c.6031-4T>A 139283158 MedGen:CN221809;MedGen:CN169374 X 53575225 53575225 A T 134701 single nucleotide variant NM_031407.6(HUWE1):c.6031-4T>A 139283158 MedGen:CN221809;MedGen:CN169374 X 53602185 53602185 A T 134702 single nucleotide variant NM_031407.6(HUWE1):c.99A>G (p.Gln33=) 61743595 MedGen:CN169374 X 53648257 53648257 T C 134702 single nucleotide variant NM_031407.6(HUWE1):c.99A>G (p.Gln33=) 61743595 MedGen:CN169374 X 53675200 53675200 T C 177051 single nucleotide variant NM_031407.6(HUWE1):c.5528G>A (p.Arg1843His) 727503965 MedGen:CN169374 X 53607979 53607979 C T 177051 single nucleotide variant NM_031407.6(HUWE1):c.5528G>A (p.Arg1843His) 727503965 MedGen:CN169374 X 53581019 53581019 C T 189052 single nucleotide variant NM_031407.6(HUWE1):c.10035+6G>A 782009073 MedGen:CN169374 X 53575914 53575914 C T 189052 single nucleotide variant NM_031407.6(HUWE1):c.10035+6G>A 782009073 MedGen:CN169374 X 53548953 53548953 C T 191286 single nucleotide variant NM_031407.6(HUWE1):c.811A>G (p.Arg271Gly) 797044641 MedGen:CN169374 X 53657938 53657938 T C 191286 single nucleotide variant NM_031407.6(HUWE1):c.811A>G (p.Arg271Gly) 797044641 MedGen:CN169374 X 53630986 53630986 T C 191840 single nucleotide variant NM_031407.6(HUWE1):c.1348C>T (p.His450Tyr) 797044657 MedGen:CN169374 X 53654725 53654725 G A 191840 single nucleotide variant NM_031407.6(HUWE1):c.1348C>T (p.His450Tyr) 797044657 MedGen:CN169374 X 53627774 53627774 G A 193349 single nucleotide variant NM_031407.6(HUWE1):c.3082A>G (p.Thr1028Ala) 145758265 MedGen:CN169374 X 53627159 53627159 T C 193349 single nucleotide variant NM_031407.6(HUWE1):c.3082A>G (p.Thr1028Ala) 145758265 MedGen:CN169374 X 53600199 53600199 T C 193957 single nucleotide variant NM_031407.6(HUWE1):c.3663G>A (p.Ser1221=) 142126065 MedGen:CN169374 X 53620402 53620402 C T 193957 single nucleotide variant NM_031407.6(HUWE1):c.3663G>A (p.Ser1221=) 142126065 MedGen:CN169374 X 53593442 53593442 C T 195472 deletion NM_031407.6(HUWE1):c.8238_8240delAAC (p.Thr2747del) 797044773 MedGen:CN169374 X 53581848 53581850 GTT - 195472 deletion NM_031407.6(HUWE1):c.8238_8240delAAC (p.Thr2747del) 797044773 MedGen:CN169374 X 53554887 53554889 GTT - 195831 single nucleotide variant NM_031407.6(HUWE1):c.11996+9C>T 782772316 MedGen:CN169374 X 53565289 53565289 G A 195831 single nucleotide variant NM_031407.6(HUWE1):c.11996+9C>T 782772316 MedGen:CN169374 X 53538328 53538328 G A 205349 single nucleotide variant NM_031407.6(HUWE1):c.6632A>G (p.Asn2211Ser) 797044958 MeSH:D030342,MedGen:C0950123 X 53595727 53595727 T C 205349 single nucleotide variant NM_031407.6(HUWE1):c.6632A>G (p.Asn2211Ser) 797044958 MeSH:D030342,MedGen:C0950123 X 53568767 53568767 T C 209123 single nucleotide variant NM_031407.6(HUWE1):c.3966G>A (p.Leu1322=) 140959967 MedGen:CN169374 X 53592404 53592404 C T 209116 single nucleotide variant NM_031407.6(HUWE1):c.12831+8G>A 797045619 MedGen:CN169374 X 53534508 53534508 C T 209116 single nucleotide variant NM_031407.6(HUWE1):c.12831+8G>A 797045619 MedGen:CN169374 X 53561469 53561469 C T 209117 single nucleotide variant NM_031407.6(HUWE1):c.12245G>A (p.Arg4082His) 797045618 MedGen:CN169374 X 53536560 53536560 C T 209117 single nucleotide variant NM_031407.6(HUWE1):c.12245G>A (p.Arg4082His) 797045618 MedGen:CN169374 X 53563521 53563521 C T 209118 single nucleotide variant NM_031407.6(HUWE1):c.10824C>G (p.Leu3608=) 191407530 MedGen:CN169374 X 53546527 53546527 G C 209118 single nucleotide variant NM_031407.6(HUWE1):c.10824C>G (p.Leu3608=) 191407530 MedGen:CN169374 X 53573488 53573488 G C 209119 deletion NM_031407.6(HUWE1):c.9468_9470delGGG (p.Gly3157del) 797045622 MedGen:CN169374 X 53550684 53550686 CCC - 209119 deletion NM_031407.6(HUWE1):c.9468_9470delGGG (p.Gly3157del) 797045622 MedGen:CN169374 X 53577645 53577647 CCC - 209120 single nucleotide variant NM_031407.6(HUWE1):c.9097-6C>T 781879725 MedGen:CN169374 X 53551195 53551195 G A 209120 single nucleotide variant NM_031407.6(HUWE1):c.9097-6C>T 781879725 MedGen:CN169374 X 53578156 53578156 G A 209121 single nucleotide variant NM_031407.6(HUWE1):c.6097+7A>C 147480463 MedGen:CN169374 X 53575148 53575148 T G 209121 single nucleotide variant NM_031407.6(HUWE1):c.6097+7A>C 147480463 MedGen:CN169374 X 53602108 53602108 T G 209122 single nucleotide variant NM_031407.6(HUWE1):c.5091A>G (p.Gly1697=) 149893977 MedGen:CN169374 X 53584256 53584256 T C 209122 single nucleotide variant NM_031407.6(HUWE1):c.5091A>G (p.Gly1697=) 149893977 MedGen:CN169374 X 53611216 53611216 T C 209123 single nucleotide variant NM_031407.6(HUWE1):c.3966G>A (p.Leu1322=) 140959967 MedGen:CN169374 X 53619364 53619364 C T 209124 single nucleotide variant NM_031407.6(HUWE1):c.1885C>T (p.Arg629Cys) 797045620 MedGen:CN169374 X 53617042 53617042 G A 209124 single nucleotide variant NM_031407.6(HUWE1):c.1885C>T (p.Arg629Cys) 797045620 MedGen:CN169374 X 53644003 53644003 G A 209125 single nucleotide variant NM_031407.6(HUWE1):c.1188C>T (p.Tyr396=) 782115290 MedGen:CN169374 X 53628547 53628547 G A 209125 single nucleotide variant NM_031407.6(HUWE1):c.1188C>T (p.Tyr396=) 782115290 MedGen:CN169374 X 53655498 53655498 G A 209126 single nucleotide variant NM_031407.6(HUWE1):c.1115A>T (p.Asp372Val) 797045617 MedGen:CN169374 X 53655571 53655571 T A 209126 single nucleotide variant NM_031407.6(HUWE1):c.1115A>T (p.Asp372Val) 797045617 MedGen:CN169374 X 53628620 53628620 T A 209127 single nucleotide variant NM_031407.6(HUWE1):c.1000A>G (p.Ile334Val) 781928056 MedGen:CN169374 X 53628866 53628866 T C 209127 single nucleotide variant NM_031407.6(HUWE1):c.1000A>G (p.Ile334Val) 781928056 MedGen:CN169374 X 53655817 53655817 T C 209128 single nucleotide variant NM_031407.6(HUWE1):c.957G>T (p.Gln319His) 782234241 MedGen:CN169374 X 53656473 53656473 C A 209128 single nucleotide variant NM_031407.6(HUWE1):c.957G>T (p.Gln319His) 782234241 MedGen:CN169374 X 53629522 53629522 C A 209129 single nucleotide variant NM_031407.6(HUWE1):c.654T>C (p.Ser218=) 148129382 MedGen:CN169374 X 53631606 53631606 A G 209129 single nucleotide variant NM_031407.6(HUWE1):c.654T>C (p.Ser218=) 148129382 MedGen:CN169374 X 53658558 53658558 A G 209130 single nucleotide variant NM_031407.6(HUWE1):c.645+1G>T 797045621 MedGen:CN169374 X 53632486 53632486 C A 209130 single nucleotide variant NM_031407.6(HUWE1):c.645+1G>T 797045621 MedGen:CN169374 X 53659438 53659438 C A 209131 single nucleotide variant NM_031407.6(HUWE1):c.147C>T (p.Cys49=) 149435515 MedGen:CN169374 X 53647572 53647572 G A 209131 single nucleotide variant NM_031407.6(HUWE1):c.147C>T (p.Cys49=) 149435515 MedGen:CN169374 X 53674515 53674515 G A 213670 single nucleotide variant NM_031407.6(HUWE1):c.4013C>T (p.Ala1338Val) 863224879 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53591082 53591082 G A 213670 single nucleotide variant NM_031407.6(HUWE1):c.4013C>T (p.Ala1338Val) 863224879 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53618042 53618042 G A 215622 single nucleotide variant NM_031407.6(HUWE1):c.4637G>C (p.Trp1546Ser) 864309623 MedGen:CN169374 X 53613847 53613847 C G 215622 single nucleotide variant NM_031407.6(HUWE1):c.4637G>C (p.Trp1546Ser) 864309623 MedGen:CN169374 X 53586887 53586887 C G 215623 single nucleotide variant NM_031407.6(HUWE1):c.816G>C (p.Lys272Asn) 864309624 MedGen:CN169374 X 53657933 53657933 C G 215623 single nucleotide variant NM_031407.6(HUWE1):c.816G>C (p.Lys272Asn) 864309624 MedGen:CN169374 X 53630981 53630981 C G 247203 single nucleotide variant NM_031407.6(HUWE1):c.5642A>G (p.Asn1881Ser) 201965065 MedGen:CN169374 X 53580905 53580905 T C 247203 single nucleotide variant NM_031407.6(HUWE1):c.5642A>G (p.Asn1881Ser) 201965065 MedGen:CN169374 X 53607865 53607865 T C 265043 single nucleotide variant NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) 886041876 MedGen:CN221809 X 53578039 53578039 G A 265043 single nucleotide variant NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) 886041876 MedGen:CN221809 X 53551078 53551078 G A 267968 single nucleotide variant NM_031407.6(HUWE1):c.8558A>T (p.Glu2853Val) 782052479 MedGen:CN169374 X 53579791 53579791 T A 267968 single nucleotide variant NM_031407.6(HUWE1):c.8558A>T (p.Glu2853Val) 782052479 MedGen:CN169374 X 53552830 53552830 T A 360637 single nucleotide variant NM_031407.6(HUWE1):c.12680T>C (p.Leu4227Ser) 1057517893 MedGen:CN221809 X 53534667 53534667 A G 360637 single nucleotide variant NM_031407.6(HUWE1):c.12680T>C (p.Leu4227Ser) 1057517893 MedGen:CN221809 X 53561628 53561628 A G 361247 single nucleotide variant NM_031407.6(HUWE1):c.3239G>A (p.Arg1080His) 1057518704 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53622288 53622288 C T 361247 single nucleotide variant NM_031407.6(HUWE1):c.3239G>A (p.Arg1080His) 1057518704 MedGen:C2678046,OMIM:300706,Orphanet:ORPHA85328 X 53595328 53595328 C T

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 rs6638414 X 53689992 53689992 intronic 0.498352 0.302463794476942 GWAS of prostate cancer rs198508 X 53667875 53667875 intronic 0.448281 0.348449667937737

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000086758.15 HUWE1 300697