I3NI20 · I3NI20_HUMAN

  • Protein
    adenylate cyclase
  • Gene
    ADCY9
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

125720406080100120140160180200220240
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs14228230341I>FVariant of uncertain significance (Ensembl)gnomAD
rs7506433991I>NExAC
gnomAD
rs14228230341I>VVariant of uncertain significance (Ensembl)gnomAD
rs7620088652E>DExAC
TOPMed
gnomAD
rs20571306072E>KEnsembl
rs20571305563Q>ETOPMed
gnomAD
rs20571305353Q>HEnsembl
rs20571305563Q>KTOPMed
gnomAD
rs15671537305C>FgnomAD
rs10529608506Q>RTOPMed
gnomAD
rs20571304748K>*Ensembl
rs12012921648K>NgnomAD
rs5613058139K>E1000Genomes
ExAC
gnomAD
rs12933496859K>TTOPMed
gnomAD
rs144248702411M>LTOPMed
gnomAD
rs76376378712V>MExAC
gnomAD
rs122007533215R>SgnomAD
rs214121185315R>TEnsembl
rs77520169318V>GgnomAD
rs76071581020T>MExAC
gnomAD
rs134807113922T>AgnomAD
rs128474975223V>IgnomAD
rs75905063725C>*ExAC
gnomAD
rs205713007230M>ITOPMed
rs134646791830M>KgnomAD
rs20012499931R>GEnsembl
rs205713002731R>KEnsembl
rs77416398731R>SExAC
TOPMed
gnomAD
rs74889058232R>SExAC
TOPMed
gnomAD
rs159723626933F>VEnsembl
rs205712989837V>LEnsembl
rs74757941741D>HExAC
gnomAD
rs140609366542V>MTOPMed
gnomAD
rs159723625343N>TEnsembl
rs78046863048M>LExAC
TOPMed
gnomAD
rs78046863048M>VExAC
TOPMed
gnomAD
rs77895738752G>AExAC
gnomAD
rs127234990452G>RTOPMed
gnomAD
rs205712965253V>AEnsembl
rs124224261153V>MTOPMed
gnomAD
rs37156105055G>SESP
ExAC
TOPMed
gnomAD
rs146984244456K>RTOPMed
rs159723620857V>GEnsembl
rs159723620658H>PEnsembl
rs75582538658H>QExAC
gnomAD
rs7255639359I>NEnsembl
rs205712950259I>VEnsembl
rs126510009461E>VTOPMed
rs145102351062A>DTOPMed
gnomAD
rs75268628062A>PExAC
gnomAD
rs159723617763T>AEnsembl
rs76750537063T>IExAC
gnomAD
rs205712931064A>TEnsembl
rs56553041265K>E1000Genomes
ExAC
TOPMed
gnomAD
rs76596009666Y>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs205712921467L>FEnsembl
rs53490692068D>HEnsembl
rs14853000669D>HESP
ExAC
TOPMed
gnomAD
rs14853000669D>NESP
ExAC
TOPMed
gnomAD
rs205712913570R>QEnsembl
rs205712915270R>WTOPMed
COSV53574136
rs772697228
72E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs37430462174E>DESP
ExAC
gnomAD
rs14474754874E>QESP
ExAC
TOPMed
gnomAD
rs54543561075D>G1000Genomes
ExAC
TOPMed
gnomAD
rs54543561075D>V1000Genomes
ExAC
TOPMed
gnomAD
rs77263173676G>RExAC
gnomAD
rs102863203378V>ITOPMed
gnomAD
rs102863203378V>LTOPMed
gnomAD
rs77901257879I>VExAC
TOPMed
gnomAD
rs124442818781R>QgnomAD
COSV53579925
rs1399804998
83G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs205712871684Q>HTOPMed
rs146057891484Q>RgnomAD
rs77779157285S>RExAC
gnomAD
rs205712861886V>ATOPMed
rs76741914286V>L1000Genomes
ExAC
TOPMed
gnomAD
rs76741914286V>M1000Genomes
ExAC
TOPMed
gnomAD
rs129692858189D>ETOPMed
gnomAD
RCV000971153
rs52791170
92K>QLikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76601425392K>TExAC
gnomAD
rs97408462493G>DEnsembl
COSV99570175
rs1358886221
94L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs131772514196T>IgnomAD
rs375887137100S>LESP
ExAC
TOPMed
gnomAD
rs748406740100S>PExAC
TOPMed
gnomAD
rs748406740100S>TExAC
TOPMed
gnomAD
rs375887137100S>WESP
ExAC
TOPMed
gnomAD
rs527706058102Q>PEnsembl
rs1157829648103R>TTOPMed
gnomAD
rs1402669553104A>VTOPMed
gnomAD
rs758306629106E>KExAC
TOPMed
gnomAD
rs758306629106E>QExAC
TOPMed
gnomAD
rs778307855107S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs778307855107S>FVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000906335
rs144065949
108R>CLikely benign (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1362893267108R>HgnomAD
rs2056374734109C>REnsembl
rs2056374708109C>SgnomAD
rs2056374686111C>RTOPMed
gnomAD
rs1471821175111C>SgnomAD
rs1431883830112A>SgnomAD
rs763678836114A>TExAC
gnomAD
rs1597160753116L>PVariant of uncertain significance (Ensembl)Ensembl
rs2056374543116L>VEnsembl
rs760308458117S>FExAC
gnomAD
rs766737348120E>VExAC
TOPMed
gnomAD
rs763421336121V>IExAC
TOPMed
gnomAD
rs1222869446122I>T1000Genomes
gnomAD
rs1283681015122I>VTOPMed
gnomAD
rs1382301876124G>DgnomAD
rs765267200124G>SExAC
TOPMed
gnomAD
rs2056374232125S>*Ensembl
rs1318198374127V>LTOPMed
gnomAD
rs776834880130G>DExAC
gnomAD
rs769064622131P>LExAC
TOPMed
gnomAD
rs747200497132R>SExAC
TOPMed
gnomAD
rs1205300450133G>RTOPMed
rs775196337134Q>RExAC
gnomAD
rs771848877135G>EExAC
gnomAD
rs1435663987136T>ATOPMed
gnomAD
rs745823164136T>IExAC
gnomAD
rs1435663987136T>STOPMed
gnomAD
rs150452337137A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs745357854140G>EExAC
gnomAD
rs2056373755142V>IEnsembl
rs2056373708143S>CTOPMed
rs2056373708143S>GTOPMed
rs193292810143S>I1000Genomes
gnomAD
rs193292810143S>T1000Genomes
gnomAD
rs755805807146A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1597160644147Q>REnsembl
rs1434163106148T>ATOPMed
rs2056373478149V>DEnsembl
rs2056373506149V>IEnsembl
rs2056373434150K>RgnomAD
rs752375588152F>LExAC
gnomAD
rs79644398152F>SEnsembl
rs1454288972154N>DgnomAD
rs1383105495155L>RgnomAD
rs766679285156K>QExAC
gnomAD
rs1597151710157T>PEnsembl
rs984781815157T>STOPMed
rs2056263871158C>SgnomAD
rs770923723158C>YExAC
gnomAD
rs140567074159P>LESP
ExAC
gnomAD
rs1165709276159P>STOPMed
rs148220141160S>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs994169231161C>RTOPMed
gnomAD
rs780834261162G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1047946477163I>FEnsembl
rs374527731163I>MESP
ExAC
TOPMed
gnomAD
rs1467317181166A>TgnomAD
rs750862551166A>VExAC
TOPMed
gnomAD
rs1361670996167P>SgnomAD
rs868204077169S>FEnsembl
rs973524248170E>DTOPMed
gnomAD
rs2056263271171A>VTOPMed
gnomAD
rs370853116172G>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs915966240173A>DTOPMed
gnomAD
rs752875724173A>TExAC
TOPMed
gnomAD
rs915966240173A>VTOPMed
gnomAD
rs774173598174E>DExAC
TOPMed
gnomAD
COSV53578661
rs759674069
174E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs200558073175G>E1000Genomes
ExAC
TOPMed
gnomAD
rs770692766175G>RExAC
gnomAD
rs773096560176G>EExAC
gnomAD
rs1475481446177A>PTOPMed
gnomAD
rs769302200178P>SExAC
TOPMed
gnomAD
rs1255643254179Q>HgnomAD
rs146408573179Q>LESP
ExAC
gnomAD
rs780559672180N>KExAC
TOPMed
gnomAD
rs143999770181G>SESP
ExAC
TOPMed
gnomAD
rs542893253182C>R1000Genomes
ExAC
gnomAD
rs1245676303183Q>EgnomAD
rs1597151596183Q>PEnsembl
rs977346667184D>ETOPMed
gnomAD
COSV53575360
rs779440212
185E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs2141704628187K>NEnsembl
rs2056262571188N>HEnsembl
rs1227383281188N>STOPMed
gnomAD
RCV000970887
rs113187435
189S>GBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2056262445191K>ETOPMed
rs2056262445191K>QTOPMed
rs2056262397193T>RgnomAD
rs2056262370194S>CTOPMed
rs1295727548194S>NTOPMed
rs996434738194S>RgnomAD
rs1567428512195S>PEnsembl
rs754400130196W>CExAC
TOPMed
gnomAD
rs778366170197L>MExAC
TOPMed
gnomAD
rs899594280198L>FEnsembl
rs1597151552198L>VEnsembl
rs752890401199F>LExAC
gnomAD
rs767465372199F>LExAC
TOPMed
gnomAD
rs759853142200L>PExAC
TOPMed
gnomAD
rs2056261928202V>ATOPMed
rs766196075202V>IExAC
TOPMed
gnomAD
rs766196075202V>LExAC
TOPMed
gnomAD
rs1189338837203P>LgnomAD
rs2056261902203P>SEnsembl
rs2056261841204L>FgnomAD
rs774762593205L>PgnomAD
rs774762593205L>RgnomAD
rs368294824206A>VESP
TOPMed
gnomAD
rs2056261626207H>RgnomAD
rs1463248720209P>HgnomAD
rs1334285107209P>SgnomAD
rs1214060914210K>ETOPMed
rs1597150761212S>FTOPMed
rs76488354213G>*Ensembl
rs1378313214214G>EEnsembl
rs1160205554214G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs780073586215P>RExAC
gnomAD
rs2056251663215P>SgnomAD
rs2056251593216N>STOPMed
rs2056251593216N>TTOPMed
rs1173019018217P>HTOPMed
gnomAD
rs1173019018217P>RTOPMed
gnomAD
rs1452957344217P>TTOPMed
rs1386547859220Q>RgnomAD
rs750592510221N>DExAC
TOPMed
gnomAD
rs112278827221N>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763995166222G>RVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs763995166222G>WVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs370068796224L>FESP
ExAC
TOPMed
gnomAD
rs1253174135225S>NgnomAD
rs775180493226P>RExAC
gnomAD
rs2056251199229E>GgnomAD
rs868435762233T>ITOPMed
rs868435762233T>STOPMed
rs759286668234N>DExAC
TOPMed
gnomAD
rs759286668234N>HExAC
TOPMed
gnomAD
rs1245864546235S>GgnomAD
rs1400305269236Q>HgnomAD
rs1321369782239L>VTOPMed
gnomAD
rs770201418241E>GExAC
gnomAD
rs866821182244Q>*TOPMed
rs866821182244Q>ETOPMed
rs961185232244Q>HEnsembl
rs1347782959244Q>RTOPMed
gnomAD
rs1366944598250A>GgnomAD
rs1366944598250A>VgnomAD
rs1262012014251G>REnsembl
rs1016884739252V>MEnsembl
rs1456924971253S>IgnomAD
rs1456924971253S>NgnomAD
rs1005470058257S>LTOPMed
gnomAD
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