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Items: 1 to 20 of 4570

1.

rs1490854699 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:42663879 (GRCh38)
    15:42956077 (GRCh37)
    Canonical SPDI:
    NC_000015.10:42663878:A:G
    Gene:
    STARD9 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000015/4 (TOPMED)
    G=0.000036/5 (GnomAD)
    HGVS:
    NC_000015.10:g.42663879A>G, NC_000015.9:g.42956077A>G, XM_011521831.4:c.1138A>G, XM_011521831.3:c.1138A>G, XM_011521831.2:c.1138A>G, XM_011521831.1:c.1138A>G, XM_011521834.4:c.1138A>G, XM_011521834.3:c.1138A>G, XM_011521834.2:c.1138A>G, XM_011521834.1:c.1138A>G, XM_011521835.4:c.1138A>G, XM_011521835.3:c.1138A>G, XM_011521835.2:c.1138A>G, XM_011521835.1:c.1138A>G, XM_011521837.4:c.886A>G, XM_011521837.3:c.886A>G, XM_011521837.2:c.886A>G, XM_011521837.1:c.886A>G, XM_017022441.3:c.919A>G, XM_017022441.2:c.919A>G, XM_017022441.1:c.919A>G, XM_011521836.3:c.976A>G, XM_011521836.2:c.976A>G, XM_011521836.1:c.976A>G, XM_011521832.3:c.1135A>G, XM_011521832.2:c.1135A>G, XM_011521832.1:c.1135A>G, NM_020759.3:c.1138A>G, NM_020759.2:c.1138A>G, XM_011521833.3:c.1105A>G, XM_011521833.2:c.1105A>G, XM_011521833.1:c.1105A>G, XM_017022439.3:c.1138A>G, XM_017022439.2:c.1138A>G, XM_017022439.1:c.1138A>G, XM_017022440.2:c.976A>G, XM_017022440.1:c.976A>G, XM_024450002.2:c.1138A>G, XM_024450002.1:c.1138A>G, XM_047432901.1:c.1105A>G, XM_047432902.1:c.1105A>G, XM_017022442.1:c.424A>G, XM_017022443.1:c.424A>G, XM_047432903.1:c.1138A>G, XP_011520133.1:p.Ser380Gly, XP_011520136.1:p.Ser380Gly, XP_011520137.1:p.Ser380Gly, XP_011520139.1:p.Ser296Gly, XP_016877930.1:p.Ser307Gly, XP_011520138.1:p.Ser326Gly, XP_011520134.1:p.Ser379Gly, NP_065810.2:p.Ser380Gly, XP_011520135.1:p.Ser369Gly, XP_016877928.1:p.Ser380Gly, XP_016877929.1:p.Ser326Gly, XP_024305770.1:p.Ser380Gly, XP_047288857.1:p.Ser369Gly, XP_047288858.1:p.Ser369Gly, XP_016877931.1:p.Ser142Gly, XP_016877932.1:p.Ser142Gly, XP_047288859.1:p.Ser380Gly

    2.

    rs1490854593 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      15:42691957 (GRCh38)
      15:42984155 (GRCh37)
      Canonical SPDI:
      NC_000015.10:42691956:A:C,NC_000015.10:42691956:A:G
      Gene:
      STARD9 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000007/1 (GnomAD_exomes)
      C=0.001092/2 (Korea1K)
      HGVS:
      NC_000015.10:g.42691957A>C, NC_000015.10:g.42691957A>G, NC_000015.9:g.42984155A>C, NC_000015.9:g.42984155A>G, XM_011521831.4:c.10379A>C, XM_011521831.4:c.10379A>G, XM_011521831.3:c.10379A>C, XM_011521831.3:c.10379A>G, XM_011521831.2:c.10379A>C, XM_011521831.2:c.10379A>G, XM_011521831.1:c.10379A>C, XM_011521831.1:c.10379A>G, XM_011521834.4:c.10316A>C, XM_011521834.4:c.10316A>G, XM_011521834.3:c.10316A>C, XM_011521834.3:c.10316A>G, XM_011521834.2:c.10316A>C, XM_011521834.2:c.10316A>G, XM_011521834.1:c.10316A>C, XM_011521834.1:c.10316A>G, XM_011521835.4:c.10238A>C, XM_011521835.4:c.10238A>G, XM_011521835.3:c.10238A>C, XM_011521835.3:c.10238A>G, XM_011521835.2:c.10238A>C, XM_011521835.2:c.10238A>G, XM_011521835.1:c.10238A>C, XM_011521835.1:c.10238A>G, XM_011521837.4:c.10127A>C, XM_011521837.4:c.10127A>G, XM_011521837.3:c.10127A>C, XM_011521837.3:c.10127A>G, XM_011521837.2:c.10127A>C, XM_011521837.2:c.10127A>G, XM_011521837.1:c.10127A>C, XM_011521837.1:c.10127A>G, XM_017022441.3:c.10160A>C, XM_017022441.3:c.10160A>G, XM_017022441.2:c.10160A>C, XM_017022441.2:c.10160A>G, XM_017022441.1:c.10160A>C, XM_017022441.1:c.10160A>G, XM_011521836.3:c.10217A>C, XM_011521836.3:c.10217A>G, XM_011521836.2:c.10217A>C, XM_011521836.2:c.10217A>G, XM_011521836.1:c.10217A>C, XM_011521836.1:c.10217A>G, XM_011521832.3:c.10376A>C, XM_011521832.3:c.10376A>G, XM_011521832.2:c.10376A>C, XM_011521832.2:c.10376A>G, XM_011521832.1:c.10376A>C, XM_011521832.1:c.10376A>G, NM_020759.3:c.10379A>C, NM_020759.3:c.10379A>G, NM_020759.2:c.10379A>C, NM_020759.2:c.10379A>G, XM_011521833.3:c.10346A>C, XM_011521833.3:c.10346A>G, XM_011521833.2:c.10346A>C, XM_011521833.2:c.10346A>G, XM_011521833.1:c.10346A>C, XM_011521833.1:c.10346A>G, XM_017022439.3:c.10301A>C, XM_017022439.3:c.10301A>G, XM_017022439.2:c.10301A>C, XM_017022439.2:c.10301A>G, XM_017022439.1:c.10301A>C, XM_017022439.1:c.10301A>G, XM_017022440.2:c.10217A>C, XM_017022440.2:c.10217A>G, XM_017022440.1:c.10217A>C, XM_017022440.1:c.10217A>G, XM_047432901.1:c.10268A>C, XM_047432901.1:c.10268A>G, XM_047432902.1:c.10205A>C, XM_047432902.1:c.10205A>G, XM_017022442.1:c.9665A>C, XM_017022442.1:c.9665A>G, XM_017022443.1:c.9665A>C, XM_017022443.1:c.9665A>G, XM_047432903.1:c.10379A>C, XM_047432903.1:c.10379A>G, NM_032381.1:c.*1670A>C, NM_032381.1:c.*1670A>G, XP_011520133.1:p.His3460Pro, XP_011520133.1:p.His3460Arg, XP_011520136.1:p.His3439Pro, XP_011520136.1:p.His3439Arg, XP_011520137.1:p.His3413Pro, XP_011520137.1:p.His3413Arg, XP_011520139.1:p.His3376Pro, XP_011520139.1:p.His3376Arg, XP_016877930.1:p.His3387Pro, XP_016877930.1:p.His3387Arg, XP_011520138.1:p.His3406Pro, XP_011520138.1:p.His3406Arg, XP_011520134.1:p.His3459Pro, XP_011520134.1:p.His3459Arg, NP_065810.2:p.His3460Pro, NP_065810.2:p.His3460Arg, XP_011520135.1:p.His3449Pro, XP_011520135.1:p.His3449Arg, XP_016877928.1:p.His3434Pro, XP_016877928.1:p.His3434Arg, XP_016877929.1:p.His3406Pro, XP_016877929.1:p.His3406Arg, XP_047288857.1:p.His3423Pro, XP_047288857.1:p.His3423Arg, XP_047288858.1:p.His3402Pro, XP_047288858.1:p.His3402Arg, XP_016877931.1:p.His3222Pro, XP_016877931.1:p.His3222Arg, XP_016877932.1:p.His3222Pro, XP_016877932.1:p.His3222Arg, XP_047288859.1:p.His3460Pro, XP_047288859.1:p.His3460Arg

      3.

      rs1490779837 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        15:42685210 (GRCh38)
        15:42977408 (GRCh37)
        Canonical SPDI:
        NC_000015.10:42685209:A:G,NC_000015.10:42685209:A:T
        Gene:
        STARD9 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        T=0.000007/1 (GnomAD_exomes)
        T=0.000342/1 (KOREAN)
        HGVS:
        NC_000015.10:g.42685210A>G, NC_000015.10:g.42685210A>T, NC_000015.9:g.42977408A>G, NC_000015.9:g.42977408A>T, XM_011521831.4:c.3632A>G, XM_011521831.4:c.3632A>T, XM_011521831.3:c.3632A>G, XM_011521831.3:c.3632A>T, XM_011521831.2:c.3632A>G, XM_011521831.2:c.3632A>T, XM_011521831.1:c.3632A>G, XM_011521831.1:c.3632A>T, XM_011521834.4:c.3569A>G, XM_011521834.4:c.3569A>T, XM_011521834.3:c.3569A>G, XM_011521834.3:c.3569A>T, XM_011521834.2:c.3569A>G, XM_011521834.2:c.3569A>T, XM_011521834.1:c.3569A>G, XM_011521834.1:c.3569A>T, XM_011521835.4:c.3491A>G, XM_011521835.4:c.3491A>T, XM_011521835.3:c.3491A>G, XM_011521835.3:c.3491A>T, XM_011521835.2:c.3491A>G, XM_011521835.2:c.3491A>T, XM_011521835.1:c.3491A>G, XM_011521835.1:c.3491A>T, XM_011521837.4:c.3380A>G, XM_011521837.4:c.3380A>T, XM_011521837.3:c.3380A>G, XM_011521837.3:c.3380A>T, XM_011521837.2:c.3380A>G, XM_011521837.2:c.3380A>T, XM_011521837.1:c.3380A>G, XM_011521837.1:c.3380A>T, XM_017022441.3:c.3413A>G, XM_017022441.3:c.3413A>T, XM_017022441.2:c.3413A>G, XM_017022441.2:c.3413A>T, XM_017022441.1:c.3413A>G, XM_017022441.1:c.3413A>T, XM_011521836.3:c.3470A>G, XM_011521836.3:c.3470A>T, XM_011521836.2:c.3470A>G, XM_011521836.2:c.3470A>T, XM_011521836.1:c.3470A>G, XM_011521836.1:c.3470A>T, XM_011521832.3:c.3629A>G, XM_011521832.3:c.3629A>T, XM_011521832.2:c.3629A>G, XM_011521832.2:c.3629A>T, XM_011521832.1:c.3629A>G, XM_011521832.1:c.3629A>T, NM_020759.3:c.3632A>G, NM_020759.3:c.3632A>T, NM_020759.2:c.3632A>G, NM_020759.2:c.3632A>T, XM_011521833.3:c.3599A>G, XM_011521833.3:c.3599A>T, XM_011521833.2:c.3599A>G, XM_011521833.2:c.3599A>T, XM_011521833.1:c.3599A>G, XM_011521833.1:c.3599A>T, XM_017022439.3:c.3554A>G, XM_017022439.3:c.3554A>T, XM_017022439.2:c.3554A>G, XM_017022439.2:c.3554A>T, XM_017022439.1:c.3554A>G, XM_017022439.1:c.3554A>T, XM_017022440.2:c.3470A>G, XM_017022440.2:c.3470A>T, XM_017022440.1:c.3470A>G, XM_017022440.1:c.3470A>T, XM_024450002.2:c.3632A>G, XM_024450002.2:c.3632A>T, XM_024450002.1:c.3632A>G, XM_024450002.1:c.3632A>T, XM_047432901.1:c.3521A>G, XM_047432901.1:c.3521A>T, XM_047432902.1:c.3458A>G, XM_047432902.1:c.3458A>T, XM_017022442.1:c.2918A>G, XM_017022442.1:c.2918A>T, XM_017022443.1:c.2918A>G, XM_017022443.1:c.2918A>T, XM_047432903.1:c.3632A>G, XM_047432903.1:c.3632A>T, XP_011520133.1:p.Glu1211Gly, XP_011520133.1:p.Glu1211Val, XP_011520136.1:p.Glu1190Gly, XP_011520136.1:p.Glu1190Val, XP_011520137.1:p.Glu1164Gly, XP_011520137.1:p.Glu1164Val, XP_011520139.1:p.Glu1127Gly, XP_011520139.1:p.Glu1127Val, XP_016877930.1:p.Glu1138Gly, XP_016877930.1:p.Glu1138Val, XP_011520138.1:p.Glu1157Gly, XP_011520138.1:p.Glu1157Val, XP_011520134.1:p.Glu1210Gly, XP_011520134.1:p.Glu1210Val, NP_065810.2:p.Glu1211Gly, NP_065810.2:p.Glu1211Val, XP_011520135.1:p.Glu1200Gly, XP_011520135.1:p.Glu1200Val, XP_016877928.1:p.Glu1185Gly, XP_016877928.1:p.Glu1185Val, XP_016877929.1:p.Glu1157Gly, XP_016877929.1:p.Glu1157Val, XP_024305770.1:p.Glu1211Gly, XP_024305770.1:p.Glu1211Val, XP_047288857.1:p.Glu1174Gly, XP_047288857.1:p.Glu1174Val, XP_047288858.1:p.Glu1153Gly, XP_047288858.1:p.Glu1153Val, XP_016877931.1:p.Glu973Gly, XP_016877931.1:p.Glu973Val, XP_016877932.1:p.Glu973Gly, XP_016877932.1:p.Glu973Val, XP_047288859.1:p.Glu1211Gly, XP_047288859.1:p.Glu1211Val

        4.

        rs1490714054 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          15:42685638 (GRCh38)
          15:42977836 (GRCh37)
          Canonical SPDI:
          NC_000015.10:42685637:G:C
          Gene:
          STARD9 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000084/1 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000015.10:g.42685638G>C, NC_000015.9:g.42977836G>C, XM_011521831.4:c.4060G>C, XM_011521831.3:c.4060G>C, XM_011521831.2:c.4060G>C, XM_011521831.1:c.4060G>C, XM_011521834.4:c.3997G>C, XM_011521834.3:c.3997G>C, XM_011521834.2:c.3997G>C, XM_011521834.1:c.3997G>C, XM_011521835.4:c.3919G>C, XM_011521835.3:c.3919G>C, XM_011521835.2:c.3919G>C, XM_011521835.1:c.3919G>C, XM_011521837.4:c.3808G>C, XM_011521837.3:c.3808G>C, XM_011521837.2:c.3808G>C, XM_011521837.1:c.3808G>C, XM_017022441.3:c.3841G>C, XM_017022441.2:c.3841G>C, XM_017022441.1:c.3841G>C, XM_011521836.3:c.3898G>C, XM_011521836.2:c.3898G>C, XM_011521836.1:c.3898G>C, XM_011521832.3:c.4057G>C, XM_011521832.2:c.4057G>C, XM_011521832.1:c.4057G>C, NM_020759.3:c.4060G>C, NM_020759.2:c.4060G>C, XM_011521833.3:c.4027G>C, XM_011521833.2:c.4027G>C, XM_011521833.1:c.4027G>C, XM_017022439.3:c.3982G>C, XM_017022439.2:c.3982G>C, XM_017022439.1:c.3982G>C, XM_017022440.2:c.3898G>C, XM_017022440.1:c.3898G>C, XM_024450002.2:c.4060G>C, XM_024450002.1:c.4060G>C, XM_047432901.1:c.3949G>C, XM_047432902.1:c.3886G>C, XM_017022442.1:c.3346G>C, XM_017022443.1:c.3346G>C, XM_047432903.1:c.4060G>C, XP_011520133.1:p.Val1354Leu, XP_011520136.1:p.Val1333Leu, XP_011520137.1:p.Val1307Leu, XP_011520139.1:p.Val1270Leu, XP_016877930.1:p.Val1281Leu, XP_011520138.1:p.Val1300Leu, XP_011520134.1:p.Val1353Leu, NP_065810.2:p.Val1354Leu, XP_011520135.1:p.Val1343Leu, XP_016877928.1:p.Val1328Leu, XP_016877929.1:p.Val1300Leu, XP_024305770.1:p.Val1354Leu, XP_047288857.1:p.Val1317Leu, XP_047288858.1:p.Val1296Leu, XP_016877931.1:p.Val1116Leu, XP_016877932.1:p.Val1116Leu, XP_047288859.1:p.Val1354Leu

          5.

          rs1490592707 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:42684285 (GRCh38)
            15:42976483 (GRCh37)
            Canonical SPDI:
            NC_000015.10:42684284:C:T
            Gene:
            STARD9 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            HGVS:
            NC_000015.10:g.42684285C>T, NC_000015.9:g.42976483C>T, XM_011521831.4:c.2707C>T, XM_011521831.3:c.2707C>T, XM_011521831.2:c.2707C>T, XM_011521831.1:c.2707C>T, XM_011521834.4:c.2644C>T, XM_011521834.3:c.2644C>T, XM_011521834.2:c.2644C>T, XM_011521834.1:c.2644C>T, XM_011521835.4:c.2566C>T, XM_011521835.3:c.2566C>T, XM_011521835.2:c.2566C>T, XM_011521835.1:c.2566C>T, XM_011521837.4:c.2455C>T, XM_011521837.3:c.2455C>T, XM_011521837.2:c.2455C>T, XM_011521837.1:c.2455C>T, XM_017022441.3:c.2488C>T, XM_017022441.2:c.2488C>T, XM_017022441.1:c.2488C>T, XM_011521836.3:c.2545C>T, XM_011521836.2:c.2545C>T, XM_011521836.1:c.2545C>T, XM_011521832.3:c.2704C>T, XM_011521832.2:c.2704C>T, XM_011521832.1:c.2704C>T, NM_020759.3:c.2707C>T, NM_020759.2:c.2707C>T, XM_011521833.3:c.2674C>T, XM_011521833.2:c.2674C>T, XM_011521833.1:c.2674C>T, XM_017022439.3:c.2629C>T, XM_017022439.2:c.2629C>T, XM_017022439.1:c.2629C>T, XM_017022440.2:c.2545C>T, XM_017022440.1:c.2545C>T, XM_024450002.2:c.2707C>T, XM_024450002.1:c.2707C>T, XM_047432901.1:c.2596C>T, XM_047432902.1:c.2533C>T, XM_017022442.1:c.1993C>T, XM_017022443.1:c.1993C>T, XM_047432903.1:c.2707C>T, XP_011520133.1:p.Pro903Ser, XP_011520136.1:p.Pro882Ser, XP_011520137.1:p.Pro856Ser, XP_011520139.1:p.Pro819Ser, XP_016877930.1:p.Pro830Ser, XP_011520138.1:p.Pro849Ser, XP_011520134.1:p.Pro902Ser, NP_065810.2:p.Pro903Ser, XP_011520135.1:p.Pro892Ser, XP_016877928.1:p.Pro877Ser, XP_016877929.1:p.Pro849Ser, XP_024305770.1:p.Pro903Ser, XP_047288857.1:p.Pro866Ser, XP_047288858.1:p.Pro845Ser, XP_016877931.1:p.Pro665Ser, XP_016877932.1:p.Pro665Ser, XP_047288859.1:p.Pro903Ser

            6.

            rs1490493986 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:42689904 (GRCh38)
              15:42982102 (GRCh37)
              Canonical SPDI:
              NC_000015.10:42689903:A:G
              Gene:
              STARD9 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.42689904A>G, NC_000015.9:g.42982102A>G, XM_011521831.4:c.8326A>G, XM_011521831.3:c.8326A>G, XM_011521831.2:c.8326A>G, XM_011521831.1:c.8326A>G, XM_011521834.4:c.8263A>G, XM_011521834.3:c.8263A>G, XM_011521834.2:c.8263A>G, XM_011521834.1:c.8263A>G, XM_011521835.4:c.8185A>G, XM_011521835.3:c.8185A>G, XM_011521835.2:c.8185A>G, XM_011521835.1:c.8185A>G, XM_011521837.4:c.8074A>G, XM_011521837.3:c.8074A>G, XM_011521837.2:c.8074A>G, XM_011521837.1:c.8074A>G, XM_017022441.3:c.8107A>G, XM_017022441.2:c.8107A>G, XM_017022441.1:c.8107A>G, XM_011521836.3:c.8164A>G, XM_011521836.2:c.8164A>G, XM_011521836.1:c.8164A>G, XM_011521832.3:c.8323A>G, XM_011521832.2:c.8323A>G, XM_011521832.1:c.8323A>G, NM_020759.3:c.8326A>G, NM_020759.2:c.8326A>G, XM_011521833.3:c.8293A>G, XM_011521833.2:c.8293A>G, XM_011521833.1:c.8293A>G, XM_017022439.3:c.8248A>G, XM_017022439.2:c.8248A>G, XM_017022439.1:c.8248A>G, XM_017022440.2:c.8164A>G, XM_017022440.1:c.8164A>G, XM_047432901.1:c.8215A>G, XM_047432902.1:c.8152A>G, XM_017022442.1:c.7612A>G, XM_017022443.1:c.7612A>G, XM_047432903.1:c.8326A>G, NM_032381.1:c.2254A>G, XP_011520133.1:p.Ser2776Gly, XP_011520136.1:p.Ser2755Gly, XP_011520137.1:p.Ser2729Gly, XP_011520139.1:p.Ser2692Gly, XP_016877930.1:p.Ser2703Gly, XP_011520138.1:p.Ser2722Gly, XP_011520134.1:p.Ser2775Gly, NP_065810.2:p.Ser2776Gly, XP_011520135.1:p.Ser2765Gly, XP_016877928.1:p.Ser2750Gly, XP_016877929.1:p.Ser2722Gly, XP_047288857.1:p.Ser2739Gly, XP_047288858.1:p.Ser2718Gly, XP_016877931.1:p.Ser2538Gly, XP_016877932.1:p.Ser2538Gly, XP_047288859.1:p.Ser2776Gly

              7.

              rs1490199369 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:42686257 (GRCh38)
                15:42978455 (GRCh37)
                Canonical SPDI:
                NC_000015.10:42686256:A:G
                Gene:
                STARD9 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.42686257A>G, NC_000015.9:g.42978455A>G, XM_011521831.4:c.4679A>G, XM_011521831.3:c.4679A>G, XM_011521831.2:c.4679A>G, XM_011521831.1:c.4679A>G, XM_011521834.4:c.4616A>G, XM_011521834.3:c.4616A>G, XM_011521834.2:c.4616A>G, XM_011521834.1:c.4616A>G, XM_011521835.4:c.4538A>G, XM_011521835.3:c.4538A>G, XM_011521835.2:c.4538A>G, XM_011521835.1:c.4538A>G, XM_011521837.4:c.4427A>G, XM_011521837.3:c.4427A>G, XM_011521837.2:c.4427A>G, XM_011521837.1:c.4427A>G, XM_017022441.3:c.4460A>G, XM_017022441.2:c.4460A>G, XM_017022441.1:c.4460A>G, XM_011521836.3:c.4517A>G, XM_011521836.2:c.4517A>G, XM_011521836.1:c.4517A>G, XM_011521832.3:c.4676A>G, XM_011521832.2:c.4676A>G, XM_011521832.1:c.4676A>G, NM_020759.3:c.4679A>G, NM_020759.2:c.4679A>G, XM_011521833.3:c.4646A>G, XM_011521833.2:c.4646A>G, XM_011521833.1:c.4646A>G, XM_017022439.3:c.4601A>G, XM_017022439.2:c.4601A>G, XM_017022439.1:c.4601A>G, XM_017022440.2:c.4517A>G, XM_017022440.1:c.4517A>G, XM_024450002.2:c.4679A>G, XM_024450002.1:c.4679A>G, XM_047432901.1:c.4568A>G, XM_047432902.1:c.4505A>G, XM_017022442.1:c.3965A>G, XM_017022443.1:c.3965A>G, XM_047432903.1:c.4679A>G, XP_011520133.1:p.Glu1560Gly, XP_011520136.1:p.Glu1539Gly, XP_011520137.1:p.Glu1513Gly, XP_011520139.1:p.Glu1476Gly, XP_016877930.1:p.Glu1487Gly, XP_011520138.1:p.Glu1506Gly, XP_011520134.1:p.Glu1559Gly, NP_065810.2:p.Glu1560Gly, XP_011520135.1:p.Glu1549Gly, XP_016877928.1:p.Glu1534Gly, XP_016877929.1:p.Glu1506Gly, XP_024305770.1:p.Glu1560Gly, XP_047288857.1:p.Glu1523Gly, XP_047288858.1:p.Glu1502Gly, XP_016877931.1:p.Glu1322Gly, XP_016877932.1:p.Glu1322Gly, XP_047288859.1:p.Glu1560Gly

                8.

                rs1490051131 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:42675920 (GRCh38)
                  15:42968118 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:42675919:G:A
                  Gene:
                  STARD9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.42675920G>A, NC_000015.9:g.42968118G>A, XM_011521831.4:c.1819G>A, XM_011521831.3:c.1819G>A, XM_011521831.2:c.1819G>A, XM_011521831.1:c.1819G>A, XM_011521834.4:c.1756G>A, XM_011521834.3:c.1756G>A, XM_011521834.2:c.1756G>A, XM_011521834.1:c.1756G>A, XM_011521835.4:c.1678G>A, XM_011521835.3:c.1678G>A, XM_011521835.2:c.1678G>A, XM_011521835.1:c.1678G>A, XM_011521837.4:c.1567G>A, XM_011521837.3:c.1567G>A, XM_011521837.2:c.1567G>A, XM_011521837.1:c.1567G>A, XM_017022441.3:c.1600G>A, XM_017022441.2:c.1600G>A, XM_017022441.1:c.1600G>A, XM_011521836.3:c.1657G>A, XM_011521836.2:c.1657G>A, XM_011521836.1:c.1657G>A, XM_011521832.3:c.1816G>A, XM_011521832.2:c.1816G>A, XM_011521832.1:c.1816G>A, NM_020759.3:c.1819G>A, NM_020759.2:c.1819G>A, XM_011521833.3:c.1786G>A, XM_011521833.2:c.1786G>A, XM_011521833.1:c.1786G>A, XM_017022439.3:c.1741G>A, XM_017022439.2:c.1741G>A, XM_017022439.1:c.1741G>A, XM_017022440.2:c.1657G>A, XM_017022440.1:c.1657G>A, XM_024450002.2:c.1819G>A, XM_024450002.1:c.1819G>A, XM_047432901.1:c.1708G>A, XM_047432902.1:c.1645G>A, XM_017022442.1:c.1105G>A, XM_017022443.1:c.1105G>A, XM_047432903.1:c.1819G>A, XP_011520133.1:p.Asp607Asn, XP_011520136.1:p.Asp586Asn, XP_011520137.1:p.Asp560Asn, XP_011520139.1:p.Asp523Asn, XP_016877930.1:p.Asp534Asn, XP_011520138.1:p.Asp553Asn, XP_011520134.1:p.Asp606Asn, NP_065810.2:p.Asp607Asn, XP_011520135.1:p.Asp596Asn, XP_016877928.1:p.Asp581Asn, XP_016877929.1:p.Asp553Asn, XP_024305770.1:p.Asp607Asn, XP_047288857.1:p.Asp570Asn, XP_047288858.1:p.Asp549Asn, XP_016877931.1:p.Asp369Asn, XP_016877932.1:p.Asp369Asn, XP_047288859.1:p.Asp607Asn

                  9.

                  rs1490003580 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    15:42689578 (GRCh38)
                    15:42981776 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:42689577:C:G
                    Gene:
                    STARD9 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.42689578C>G, NC_000015.9:g.42981776C>G, XM_011521831.4:c.8000C>G, XM_011521831.3:c.8000C>G, XM_011521831.2:c.8000C>G, XM_011521831.1:c.8000C>G, XM_011521834.4:c.7937C>G, XM_011521834.3:c.7937C>G, XM_011521834.2:c.7937C>G, XM_011521834.1:c.7937C>G, XM_011521835.4:c.7859C>G, XM_011521835.3:c.7859C>G, XM_011521835.2:c.7859C>G, XM_011521835.1:c.7859C>G, XM_011521837.4:c.7748C>G, XM_011521837.3:c.7748C>G, XM_011521837.2:c.7748C>G, XM_011521837.1:c.7748C>G, XM_017022441.3:c.7781C>G, XM_017022441.2:c.7781C>G, XM_017022441.1:c.7781C>G, XM_011521836.3:c.7838C>G, XM_011521836.2:c.7838C>G, XM_011521836.1:c.7838C>G, XM_011521832.3:c.7997C>G, XM_011521832.2:c.7997C>G, XM_011521832.1:c.7997C>G, NM_020759.3:c.8000C>G, NM_020759.2:c.8000C>G, XM_011521833.3:c.7967C>G, XM_011521833.2:c.7967C>G, XM_011521833.1:c.7967C>G, XM_017022439.3:c.7922C>G, XM_017022439.2:c.7922C>G, XM_017022439.1:c.7922C>G, XM_017022440.2:c.7838C>G, XM_017022440.1:c.7838C>G, XM_047432901.1:c.7889C>G, XM_047432902.1:c.7826C>G, XM_017022442.1:c.7286C>G, XM_017022443.1:c.7286C>G, XM_047432903.1:c.8000C>G, NM_032381.1:c.1928C>G, XP_011520133.1:p.Ser2667Cys, XP_011520136.1:p.Ser2646Cys, XP_011520137.1:p.Ser2620Cys, XP_011520139.1:p.Ser2583Cys, XP_016877930.1:p.Ser2594Cys, XP_011520138.1:p.Ser2613Cys, XP_011520134.1:p.Ser2666Cys, NP_065810.2:p.Ser2667Cys, XP_011520135.1:p.Ser2656Cys, XP_016877928.1:p.Ser2641Cys, XP_016877929.1:p.Ser2613Cys, XP_047288857.1:p.Ser2630Cys, XP_047288858.1:p.Ser2609Cys, XP_016877931.1:p.Ser2429Cys, XP_016877932.1:p.Ser2429Cys, XP_047288859.1:p.Ser2667Cys

                    10.

                    rs1489998169 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:42690389 (GRCh38)
                      15:42982587 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:42690388:C:T
                      Gene:
                      STARD9 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.42690389C>T, NC_000015.9:g.42982587C>T, XM_011521831.4:c.8811C>T, XM_011521831.3:c.8811C>T, XM_011521831.2:c.8811C>T, XM_011521831.1:c.8811C>T, XM_011521834.4:c.8748C>T, XM_011521834.3:c.8748C>T, XM_011521834.2:c.8748C>T, XM_011521834.1:c.8748C>T, XM_011521835.4:c.8670C>T, XM_011521835.3:c.8670C>T, XM_011521835.2:c.8670C>T, XM_011521835.1:c.8670C>T, XM_011521837.4:c.8559C>T, XM_011521837.3:c.8559C>T, XM_011521837.2:c.8559C>T, XM_011521837.1:c.8559C>T, XM_017022441.3:c.8592C>T, XM_017022441.2:c.8592C>T, XM_017022441.1:c.8592C>T, XM_011521836.3:c.8649C>T, XM_011521836.2:c.8649C>T, XM_011521836.1:c.8649C>T, XM_011521832.3:c.8808C>T, XM_011521832.2:c.8808C>T, XM_011521832.1:c.8808C>T, NM_020759.3:c.8811C>T, NM_020759.2:c.8811C>T, XM_011521833.3:c.8778C>T, XM_011521833.2:c.8778C>T, XM_011521833.1:c.8778C>T, XM_017022439.3:c.8733C>T, XM_017022439.2:c.8733C>T, XM_017022439.1:c.8733C>T, XM_017022440.2:c.8649C>T, XM_017022440.1:c.8649C>T, XM_047432901.1:c.8700C>T, XM_047432902.1:c.8637C>T, XM_017022442.1:c.8097C>T, XM_017022443.1:c.8097C>T, XM_047432903.1:c.8811C>T, NM_032381.1:c.*102C>T

                      11.

                      rs1489781293 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:42693336 (GRCh38)
                        15:42985534 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:42693335:C:T
                        Gene:
                        STARD9 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000015.10:g.42693336C>T, NC_000015.9:g.42985534C>T, XM_011521831.4:c.11758C>T, XM_011521831.3:c.11758C>T, XM_011521831.2:c.11758C>T, XM_011521831.1:c.11758C>T, XM_011521834.4:c.11695C>T, XM_011521834.3:c.11695C>T, XM_011521834.2:c.11695C>T, XM_011521834.1:c.11695C>T, XM_011521835.4:c.11617C>T, XM_011521835.3:c.11617C>T, XM_011521835.2:c.11617C>T, XM_011521835.1:c.11617C>T, XM_011521837.4:c.11506C>T, XM_011521837.3:c.11506C>T, XM_011521837.2:c.11506C>T, XM_011521837.1:c.11506C>T, XM_017022441.3:c.11539C>T, XM_017022441.2:c.11539C>T, XM_017022441.1:c.11539C>T, XM_011521836.3:c.11596C>T, XM_011521836.2:c.11596C>T, XM_011521836.1:c.11596C>T, XM_011521832.3:c.11755C>T, XM_011521832.2:c.11755C>T, XM_011521832.1:c.11755C>T, NM_020759.3:c.11758C>T, NM_020759.2:c.11758C>T, XM_011521833.3:c.11725C>T, XM_011521833.2:c.11725C>T, XM_011521833.1:c.11725C>T, XM_017022439.3:c.11680C>T, XM_017022439.2:c.11680C>T, XM_017022439.1:c.11680C>T, XM_017022440.2:c.11596C>T, XM_017022440.1:c.11596C>T, XM_047432901.1:c.11647C>T, XM_047432902.1:c.11584C>T, XM_017022442.1:c.11044C>T, XM_017022443.1:c.11044C>T, XM_047432903.1:c.11758C>T, NM_032381.1:c.*3049C>T, XP_011520133.1:p.Leu3920Phe, XP_011520136.1:p.Leu3899Phe, XP_011520137.1:p.Leu3873Phe, XP_011520139.1:p.Leu3836Phe, XP_016877930.1:p.Leu3847Phe, XP_011520138.1:p.Leu3866Phe, XP_011520134.1:p.Leu3919Phe, NP_065810.2:p.Leu3920Phe, XP_011520135.1:p.Leu3909Phe, XP_016877928.1:p.Leu3894Phe, XP_016877929.1:p.Leu3866Phe, XP_047288857.1:p.Leu3883Phe, XP_047288858.1:p.Leu3862Phe, XP_016877931.1:p.Leu3682Phe, XP_016877932.1:p.Leu3682Phe, XP_047288859.1:p.Leu3920Phe

                        12.

                        rs1489774382 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          15:42684139 (GRCh38)
                          15:42976337 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:42684138:C:G
                          Gene:
                          STARD9 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000015.10:g.42684139C>G, NC_000015.9:g.42976337C>G, XM_011521831.4:c.2561C>G, XM_011521831.3:c.2561C>G, XM_011521831.2:c.2561C>G, XM_011521831.1:c.2561C>G, XM_011521834.4:c.2498C>G, XM_011521834.3:c.2498C>G, XM_011521834.2:c.2498C>G, XM_011521834.1:c.2498C>G, XM_011521835.4:c.2420C>G, XM_011521835.3:c.2420C>G, XM_011521835.2:c.2420C>G, XM_011521835.1:c.2420C>G, XM_011521837.4:c.2309C>G, XM_011521837.3:c.2309C>G, XM_011521837.2:c.2309C>G, XM_011521837.1:c.2309C>G, XM_017022441.3:c.2342C>G, XM_017022441.2:c.2342C>G, XM_017022441.1:c.2342C>G, XM_011521836.3:c.2399C>G, XM_011521836.2:c.2399C>G, XM_011521836.1:c.2399C>G, XM_011521832.3:c.2558C>G, XM_011521832.2:c.2558C>G, XM_011521832.1:c.2558C>G, NM_020759.3:c.2561C>G, NM_020759.2:c.2561C>G, XM_011521833.3:c.2528C>G, XM_011521833.2:c.2528C>G, XM_011521833.1:c.2528C>G, XM_017022439.3:c.2483C>G, XM_017022439.2:c.2483C>G, XM_017022439.1:c.2483C>G, XM_017022440.2:c.2399C>G, XM_017022440.1:c.2399C>G, XM_024450002.2:c.2561C>G, XM_024450002.1:c.2561C>G, XM_047432901.1:c.2450C>G, XM_047432902.1:c.2387C>G, XM_017022442.1:c.1847C>G, XM_017022443.1:c.1847C>G, XM_047432903.1:c.2561C>G, XP_011520133.1:p.Ser854Cys, XP_011520136.1:p.Ser833Cys, XP_011520137.1:p.Ser807Cys, XP_011520139.1:p.Ser770Cys, XP_016877930.1:p.Ser781Cys, XP_011520138.1:p.Ser800Cys, XP_011520134.1:p.Ser853Cys, NP_065810.2:p.Ser854Cys, XP_011520135.1:p.Ser843Cys, XP_016877928.1:p.Ser828Cys, XP_016877929.1:p.Ser800Cys, XP_024305770.1:p.Ser854Cys, XP_047288857.1:p.Ser817Cys, XP_047288858.1:p.Ser796Cys, XP_016877931.1:p.Ser616Cys, XP_016877932.1:p.Ser616Cys, XP_047288859.1:p.Ser854Cys

                          13.

                          rs1489700003 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:42689437 (GRCh38)
                            15:42981635 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:42689436:C:T
                            Gene:
                            STARD9 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD_exomes)
                            T=0.000011/3 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000015.10:g.42689437C>T, NC_000015.9:g.42981635C>T, XM_011521831.4:c.7859C>T, XM_011521831.3:c.7859C>T, XM_011521831.2:c.7859C>T, XM_011521831.1:c.7859C>T, XM_011521834.4:c.7796C>T, XM_011521834.3:c.7796C>T, XM_011521834.2:c.7796C>T, XM_011521834.1:c.7796C>T, XM_011521835.4:c.7718C>T, XM_011521835.3:c.7718C>T, XM_011521835.2:c.7718C>T, XM_011521835.1:c.7718C>T, XM_011521837.4:c.7607C>T, XM_011521837.3:c.7607C>T, XM_011521837.2:c.7607C>T, XM_011521837.1:c.7607C>T, XM_017022441.3:c.7640C>T, XM_017022441.2:c.7640C>T, XM_017022441.1:c.7640C>T, XM_011521836.3:c.7697C>T, XM_011521836.2:c.7697C>T, XM_011521836.1:c.7697C>T, XM_011521832.3:c.7856C>T, XM_011521832.2:c.7856C>T, XM_011521832.1:c.7856C>T, NM_020759.3:c.7859C>T, NM_020759.2:c.7859C>T, XM_011521833.3:c.7826C>T, XM_011521833.2:c.7826C>T, XM_011521833.1:c.7826C>T, XM_017022439.3:c.7781C>T, XM_017022439.2:c.7781C>T, XM_017022439.1:c.7781C>T, XM_017022440.2:c.7697C>T, XM_017022440.1:c.7697C>T, XM_047432901.1:c.7748C>T, XM_047432902.1:c.7685C>T, XM_017022442.1:c.7145C>T, XM_017022443.1:c.7145C>T, XM_047432903.1:c.7859C>T, NM_032381.1:c.1787C>T, XP_011520133.1:p.Ser2620Phe, XP_011520136.1:p.Ser2599Phe, XP_011520137.1:p.Ser2573Phe, XP_011520139.1:p.Ser2536Phe, XP_016877930.1:p.Ser2547Phe, XP_011520138.1:p.Ser2566Phe, XP_011520134.1:p.Ser2619Phe, NP_065810.2:p.Ser2620Phe, XP_011520135.1:p.Ser2609Phe, XP_016877928.1:p.Ser2594Phe, XP_016877929.1:p.Ser2566Phe, XP_047288857.1:p.Ser2583Phe, XP_047288858.1:p.Ser2562Phe, XP_016877931.1:p.Ser2382Phe, XP_016877932.1:p.Ser2382Phe, XP_047288859.1:p.Ser2620Phe

                            14.

                            rs1489584928 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              15:42687164 (GRCh38)
                              15:42979362 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:42687163:C:A
                              Gene:
                              STARD9 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD_exomes)
                              A=0.000019/5 (TOPMED)
                              A=0.000043/6 (GnomAD)
                              HGVS:
                              NC_000015.10:g.42687164C>A, NC_000015.9:g.42979362C>A, XM_011521831.4:c.5586C>A, XM_011521831.3:c.5586C>A, XM_011521831.2:c.5586C>A, XM_011521831.1:c.5586C>A, XM_011521834.4:c.5523C>A, XM_011521834.3:c.5523C>A, XM_011521834.2:c.5523C>A, XM_011521834.1:c.5523C>A, XM_011521835.4:c.5445C>A, XM_011521835.3:c.5445C>A, XM_011521835.2:c.5445C>A, XM_011521835.1:c.5445C>A, XM_011521837.4:c.5334C>A, XM_011521837.3:c.5334C>A, XM_011521837.2:c.5334C>A, XM_011521837.1:c.5334C>A, XM_017022441.3:c.5367C>A, XM_017022441.2:c.5367C>A, XM_017022441.1:c.5367C>A, XM_011521836.3:c.5424C>A, XM_011521836.2:c.5424C>A, XM_011521836.1:c.5424C>A, XM_011521832.3:c.5583C>A, XM_011521832.2:c.5583C>A, XM_011521832.1:c.5583C>A, NM_020759.3:c.5586C>A, NM_020759.2:c.5586C>A, XM_011521833.3:c.5553C>A, XM_011521833.2:c.5553C>A, XM_011521833.1:c.5553C>A, XM_017022439.3:c.5508C>A, XM_017022439.2:c.5508C>A, XM_017022439.1:c.5508C>A, XM_017022440.2:c.5424C>A, XM_017022440.1:c.5424C>A, XM_047432901.1:c.5475C>A, XM_047432902.1:c.5412C>A, XM_017022442.1:c.4872C>A, XM_017022443.1:c.4872C>A, XM_047432903.1:c.5586C>A, XP_011520133.1:p.Ser1862Arg, XP_011520136.1:p.Ser1841Arg, XP_011520137.1:p.Ser1815Arg, XP_011520139.1:p.Ser1778Arg, XP_016877930.1:p.Ser1789Arg, XP_011520138.1:p.Ser1808Arg, XP_011520134.1:p.Ser1861Arg, NP_065810.2:p.Ser1862Arg, XP_011520135.1:p.Ser1851Arg, XP_016877928.1:p.Ser1836Arg, XP_016877929.1:p.Ser1808Arg, XP_047288857.1:p.Ser1825Arg, XP_047288858.1:p.Ser1804Arg, XP_016877931.1:p.Ser1624Arg, XP_016877932.1:p.Ser1624Arg, XP_047288859.1:p.Ser1862Arg

                              15.

                              rs1489564957 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:42692707 (GRCh38)
                                15:42984905 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:42692706:C:T
                                Gene:
                                STARD9 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000015.10:g.42692707C>T, NC_000015.9:g.42984905C>T, XM_011521831.4:c.11129C>T, XM_011521831.3:c.11129C>T, XM_011521831.2:c.11129C>T, XM_011521831.1:c.11129C>T, XM_011521834.4:c.11066C>T, XM_011521834.3:c.11066C>T, XM_011521834.2:c.11066C>T, XM_011521834.1:c.11066C>T, XM_011521835.4:c.10988C>T, XM_011521835.3:c.10988C>T, XM_011521835.2:c.10988C>T, XM_011521835.1:c.10988C>T, XM_011521837.4:c.10877C>T, XM_011521837.3:c.10877C>T, XM_011521837.2:c.10877C>T, XM_011521837.1:c.10877C>T, XM_017022441.3:c.10910C>T, XM_017022441.2:c.10910C>T, XM_017022441.1:c.10910C>T, XM_011521836.3:c.10967C>T, XM_011521836.2:c.10967C>T, XM_011521836.1:c.10967C>T, XM_011521832.3:c.11126C>T, XM_011521832.2:c.11126C>T, XM_011521832.1:c.11126C>T, NM_020759.3:c.11129C>T, NM_020759.2:c.11129C>T, XM_011521833.3:c.11096C>T, XM_011521833.2:c.11096C>T, XM_011521833.1:c.11096C>T, XM_017022439.3:c.11051C>T, XM_017022439.2:c.11051C>T, XM_017022439.1:c.11051C>T, XM_017022440.2:c.10967C>T, XM_017022440.1:c.10967C>T, XM_047432901.1:c.11018C>T, XM_047432902.1:c.10955C>T, XM_017022442.1:c.10415C>T, XM_017022443.1:c.10415C>T, XM_047432903.1:c.11129C>T, NM_032381.1:c.*2420C>T, XP_011520133.1:p.Thr3710Ile, XP_011520136.1:p.Thr3689Ile, XP_011520137.1:p.Thr3663Ile, XP_011520139.1:p.Thr3626Ile, XP_016877930.1:p.Thr3637Ile, XP_011520138.1:p.Thr3656Ile, XP_011520134.1:p.Thr3709Ile, NP_065810.2:p.Thr3710Ile, XP_011520135.1:p.Thr3699Ile, XP_016877928.1:p.Thr3684Ile, XP_016877929.1:p.Thr3656Ile, XP_047288857.1:p.Thr3673Ile, XP_047288858.1:p.Thr3652Ile, XP_016877931.1:p.Thr3472Ile, XP_016877932.1:p.Thr3472Ile, XP_047288859.1:p.Thr3710Ile

                                16.

                                rs1489484423 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:42686321 (GRCh38)
                                  15:42978519 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:42686320:G:A
                                  Gene:
                                  STARD9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.42686321G>A, NC_000015.9:g.42978519G>A, XM_011521831.4:c.4743G>A, XM_011521831.3:c.4743G>A, XM_011521831.2:c.4743G>A, XM_011521831.1:c.4743G>A, XM_011521834.4:c.4680G>A, XM_011521834.3:c.4680G>A, XM_011521834.2:c.4680G>A, XM_011521834.1:c.4680G>A, XM_011521835.4:c.4602G>A, XM_011521835.3:c.4602G>A, XM_011521835.2:c.4602G>A, XM_011521835.1:c.4602G>A, XM_011521837.4:c.4491G>A, XM_011521837.3:c.4491G>A, XM_011521837.2:c.4491G>A, XM_011521837.1:c.4491G>A, XM_017022441.3:c.4524G>A, XM_017022441.2:c.4524G>A, XM_017022441.1:c.4524G>A, XM_011521836.3:c.4581G>A, XM_011521836.2:c.4581G>A, XM_011521836.1:c.4581G>A, XM_011521832.3:c.4740G>A, XM_011521832.2:c.4740G>A, XM_011521832.1:c.4740G>A, NM_020759.3:c.4743G>A, NM_020759.2:c.4743G>A, XM_011521833.3:c.4710G>A, XM_011521833.2:c.4710G>A, XM_011521833.1:c.4710G>A, XM_017022439.3:c.4665G>A, XM_017022439.2:c.4665G>A, XM_017022439.1:c.4665G>A, XM_017022440.2:c.4581G>A, XM_017022440.1:c.4581G>A, XM_024450002.2:c.4743G>A, XM_024450002.1:c.4743G>A, XM_047432901.1:c.4632G>A, XM_047432902.1:c.4569G>A, XM_017022442.1:c.4029G>A, XM_017022443.1:c.4029G>A, XM_047432903.1:c.4743G>A

                                  17.

                                  rs1489414393 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    15:42686865 (GRCh38)
                                    15:42979063 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:42686864:A:G,NC_000015.10:42686864:A:T
                                    Gene:
                                    STARD9 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000015.10:g.42686865A>G, NC_000015.10:g.42686865A>T, NC_000015.9:g.42979063A>G, NC_000015.9:g.42979063A>T, XM_011521831.4:c.5287A>G, XM_011521831.4:c.5287A>T, XM_011521831.3:c.5287A>G, XM_011521831.3:c.5287A>T, XM_011521831.2:c.5287A>G, XM_011521831.2:c.5287A>T, XM_011521831.1:c.5287A>G, XM_011521831.1:c.5287A>T, XM_011521834.4:c.5224A>G, XM_011521834.4:c.5224A>T, XM_011521834.3:c.5224A>G, XM_011521834.3:c.5224A>T, XM_011521834.2:c.5224A>G, XM_011521834.2:c.5224A>T, XM_011521834.1:c.5224A>G, XM_011521834.1:c.5224A>T, XM_011521835.4:c.5146A>G, XM_011521835.4:c.5146A>T, XM_011521835.3:c.5146A>G, XM_011521835.3:c.5146A>T, XM_011521835.2:c.5146A>G, XM_011521835.2:c.5146A>T, XM_011521835.1:c.5146A>G, XM_011521835.1:c.5146A>T, XM_011521837.4:c.5035A>G, XM_011521837.4:c.5035A>T, XM_011521837.3:c.5035A>G, XM_011521837.3:c.5035A>T, XM_011521837.2:c.5035A>G, XM_011521837.2:c.5035A>T, XM_011521837.1:c.5035A>G, XM_011521837.1:c.5035A>T, XM_017022441.3:c.5068A>G, XM_017022441.3:c.5068A>T, XM_017022441.2:c.5068A>G, XM_017022441.2:c.5068A>T, XM_017022441.1:c.5068A>G, XM_017022441.1:c.5068A>T, XM_011521836.3:c.5125A>G, XM_011521836.3:c.5125A>T, XM_011521836.2:c.5125A>G, XM_011521836.2:c.5125A>T, XM_011521836.1:c.5125A>G, XM_011521836.1:c.5125A>T, XM_011521832.3:c.5284A>G, XM_011521832.3:c.5284A>T, XM_011521832.2:c.5284A>G, XM_011521832.2:c.5284A>T, XM_011521832.1:c.5284A>G, XM_011521832.1:c.5284A>T, NM_020759.3:c.5287A>G, NM_020759.3:c.5287A>T, NM_020759.2:c.5287A>G, NM_020759.2:c.5287A>T, XM_011521833.3:c.5254A>G, XM_011521833.3:c.5254A>T, XM_011521833.2:c.5254A>G, XM_011521833.2:c.5254A>T, XM_011521833.1:c.5254A>G, XM_011521833.1:c.5254A>T, XM_017022439.3:c.5209A>G, XM_017022439.3:c.5209A>T, XM_017022439.2:c.5209A>G, XM_017022439.2:c.5209A>T, XM_017022439.1:c.5209A>G, XM_017022439.1:c.5209A>T, XM_017022440.2:c.5125A>G, XM_017022440.2:c.5125A>T, XM_017022440.1:c.5125A>G, XM_017022440.1:c.5125A>T, XM_024450002.2:c.5287A>G, XM_024450002.2:c.5287A>T, XM_024450002.1:c.5287A>G, XM_024450002.1:c.5287A>T, XM_047432901.1:c.5176A>G, XM_047432901.1:c.5176A>T, XM_047432902.1:c.5113A>G, XM_047432902.1:c.5113A>T, XM_017022442.1:c.4573A>G, XM_017022442.1:c.4573A>T, XM_017022443.1:c.4573A>G, XM_017022443.1:c.4573A>T, XM_047432903.1:c.5287A>G, XM_047432903.1:c.5287A>T, XP_011520133.1:p.Ile1763Val, XP_011520133.1:p.Ile1763Phe, XP_011520136.1:p.Ile1742Val, XP_011520136.1:p.Ile1742Phe, XP_011520137.1:p.Ile1716Val, XP_011520137.1:p.Ile1716Phe, XP_011520139.1:p.Ile1679Val, XP_011520139.1:p.Ile1679Phe, XP_016877930.1:p.Ile1690Val, XP_016877930.1:p.Ile1690Phe, XP_011520138.1:p.Ile1709Val, XP_011520138.1:p.Ile1709Phe, XP_011520134.1:p.Ile1762Val, XP_011520134.1:p.Ile1762Phe, NP_065810.2:p.Ile1763Val, NP_065810.2:p.Ile1763Phe, XP_011520135.1:p.Ile1752Val, XP_011520135.1:p.Ile1752Phe, XP_016877928.1:p.Ile1737Val, XP_016877928.1:p.Ile1737Phe, XP_016877929.1:p.Ile1709Val, XP_016877929.1:p.Ile1709Phe, XP_024305770.1:p.Ile1763Val, XP_024305770.1:p.Ile1763Phe, XP_047288857.1:p.Ile1726Val, XP_047288857.1:p.Ile1726Phe, XP_047288858.1:p.Ile1705Val, XP_047288858.1:p.Ile1705Phe, XP_016877931.1:p.Ile1525Val, XP_016877931.1:p.Ile1525Phe, XP_016877932.1:p.Ile1525Val, XP_016877932.1:p.Ile1525Phe, XP_047288859.1:p.Ile1763Val, XP_047288859.1:p.Ile1763Phe

                                    18.

                                    rs1489408808 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:42693529 (GRCh38)
                                      15:42985727 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:42693528:G:A
                                      Gene:
                                      STARD9 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.42693529G>A, NC_000015.9:g.42985727G>A, XM_011521831.4:c.11951G>A, XM_011521831.3:c.11951G>A, XM_011521831.2:c.11951G>A, XM_011521831.1:c.11951G>A, XM_011521834.4:c.11888G>A, XM_011521834.3:c.11888G>A, XM_011521834.2:c.11888G>A, XM_011521834.1:c.11888G>A, XM_011521835.4:c.11810G>A, XM_011521835.3:c.11810G>A, XM_011521835.2:c.11810G>A, XM_011521835.1:c.11810G>A, XM_011521837.4:c.11699G>A, XM_011521837.3:c.11699G>A, XM_011521837.2:c.11699G>A, XM_011521837.1:c.11699G>A, XM_017022441.3:c.11732G>A, XM_017022441.2:c.11732G>A, XM_017022441.1:c.11732G>A, XM_011521836.3:c.11789G>A, XM_011521836.2:c.11789G>A, XM_011521836.1:c.11789G>A, XM_011521832.3:c.11948G>A, XM_011521832.2:c.11948G>A, XM_011521832.1:c.11948G>A, NM_020759.3:c.11951G>A, NM_020759.2:c.11951G>A, XM_011521833.3:c.11918G>A, XM_011521833.2:c.11918G>A, XM_011521833.1:c.11918G>A, XM_017022439.3:c.11873G>A, XM_017022439.2:c.11873G>A, XM_017022439.1:c.11873G>A, XM_017022440.2:c.11789G>A, XM_017022440.1:c.11789G>A, XM_047432901.1:c.11840G>A, XM_047432902.1:c.11777G>A, XM_017022442.1:c.11237G>A, XM_017022443.1:c.11237G>A, XM_047432903.1:c.11951G>A, NM_032381.1:c.*3242G>A, XP_011520133.1:p.Ser3984Asn, XP_011520136.1:p.Ser3963Asn, XP_011520137.1:p.Ser3937Asn, XP_011520139.1:p.Ser3900Asn, XP_016877930.1:p.Ser3911Asn, XP_011520138.1:p.Ser3930Asn, XP_011520134.1:p.Ser3983Asn, NP_065810.2:p.Ser3984Asn, XP_011520135.1:p.Ser3973Asn, XP_016877928.1:p.Ser3958Asn, XP_016877929.1:p.Ser3930Asn, XP_047288857.1:p.Ser3947Asn, XP_047288858.1:p.Ser3926Asn, XP_016877931.1:p.Ser3746Asn, XP_016877932.1:p.Ser3746Asn, XP_047288859.1:p.Ser3984Asn

                                      19.

                                      rs1488786537 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        15:42692172 (GRCh38)
                                        15:42984371 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:42692172:A:AA
                                        Gene:
                                        STARD9 (Varview)
                                        Functional Consequence:
                                        stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.42692173dup, NC_000015.9:g.42984371dup, XM_011521831.4:c.10595dup, XM_011521831.3:c.10595dup, XM_011521831.2:c.10595dup, XM_011521831.1:c.10595dup, XM_011521834.4:c.10532dup, XM_011521834.3:c.10532dup, XM_011521834.2:c.10532dup, XM_011521834.1:c.10532dup, XM_011521835.4:c.10454dup, XM_011521835.3:c.10454dup, XM_011521835.2:c.10454dup, XM_011521835.1:c.10454dup, XM_011521837.4:c.10343dup, XM_011521837.3:c.10343dup, XM_011521837.2:c.10343dup, XM_011521837.1:c.10343dup, XM_017022441.3:c.10376dup, XM_017022441.2:c.10376dup, XM_017022441.1:c.10376dup, XM_011521836.3:c.10433dup, XM_011521836.2:c.10433dup, XM_011521836.1:c.10433dup, XM_011521832.3:c.10592dup, XM_011521832.2:c.10592dup, XM_011521832.1:c.10592dup, NM_020759.3:c.10595dup, NM_020759.2:c.10595dup, XM_011521833.3:c.10562dup, XM_011521833.2:c.10562dup, XM_011521833.1:c.10562dup, XM_017022439.3:c.10517dup, XM_017022439.2:c.10517dup, XM_017022439.1:c.10517dup, XM_017022440.2:c.10433dup, XM_017022440.1:c.10433dup, XM_047432901.1:c.10484dup, XM_047432902.1:c.10421dup, XM_017022442.1:c.9881dup, XM_017022443.1:c.9881dup, XM_047432903.1:c.10595dup, NM_032381.1:c.*1886dup, XP_011520133.1:p.Tyr3532Ter, XP_011520136.1:p.Tyr3511Ter, XP_011520137.1:p.Tyr3485Ter, XP_011520139.1:p.Tyr3448Ter, XP_016877930.1:p.Tyr3459Ter, XP_011520138.1:p.Tyr3478Ter, XP_011520134.1:p.Tyr3531Ter, NP_065810.2:p.Tyr3532Ter, XP_011520135.1:p.Tyr3521Ter, XP_016877928.1:p.Tyr3506Ter, XP_016877929.1:p.Tyr3478Ter, XP_047288857.1:p.Tyr3495Ter, XP_047288858.1:p.Tyr3474Ter, XP_016877931.1:p.Tyr3294Ter, XP_016877932.1:p.Tyr3294Ter, XP_047288859.1:p.Tyr3532Ter

                                        20.

                                        rs1488741700 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:42692125 (GRCh38)
                                          15:42984323 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:42692124:A:G
                                          Gene:
                                          STARD9 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.42692125A>G, NC_000015.9:g.42984323A>G, XM_011521831.4:c.10547A>G, XM_011521831.3:c.10547A>G, XM_011521831.2:c.10547A>G, XM_011521831.1:c.10547A>G, XM_011521834.4:c.10484A>G, XM_011521834.3:c.10484A>G, XM_011521834.2:c.10484A>G, XM_011521834.1:c.10484A>G, XM_011521835.4:c.10406A>G, XM_011521835.3:c.10406A>G, XM_011521835.2:c.10406A>G, XM_011521835.1:c.10406A>G, XM_011521837.4:c.10295A>G, XM_011521837.3:c.10295A>G, XM_011521837.2:c.10295A>G, XM_011521837.1:c.10295A>G, XM_017022441.3:c.10328A>G, XM_017022441.2:c.10328A>G, XM_017022441.1:c.10328A>G, XM_011521836.3:c.10385A>G, XM_011521836.2:c.10385A>G, XM_011521836.1:c.10385A>G, XM_011521832.3:c.10544A>G, XM_011521832.2:c.10544A>G, XM_011521832.1:c.10544A>G, NM_020759.3:c.10547A>G, NM_020759.2:c.10547A>G, XM_011521833.3:c.10514A>G, XM_011521833.2:c.10514A>G, XM_011521833.1:c.10514A>G, XM_017022439.3:c.10469A>G, XM_017022439.2:c.10469A>G, XM_017022439.1:c.10469A>G, XM_017022440.2:c.10385A>G, XM_017022440.1:c.10385A>G, XM_047432901.1:c.10436A>G, XM_047432902.1:c.10373A>G, XM_017022442.1:c.9833A>G, XM_017022443.1:c.9833A>G, XM_047432903.1:c.10547A>G, NM_032381.1:c.*1838A>G, XP_011520133.1:p.Asn3516Ser, XP_011520136.1:p.Asn3495Ser, XP_011520137.1:p.Asn3469Ser, XP_011520139.1:p.Asn3432Ser, XP_016877930.1:p.Asn3443Ser, XP_011520138.1:p.Asn3462Ser, XP_011520134.1:p.Asn3515Ser, NP_065810.2:p.Asn3516Ser, XP_011520135.1:p.Asn3505Ser, XP_016877928.1:p.Asn3490Ser, XP_016877929.1:p.Asn3462Ser, XP_047288857.1:p.Asn3479Ser, XP_047288858.1:p.Asn3458Ser, XP_016877931.1:p.Asn3278Ser, XP_016877932.1:p.Asn3278Ser, XP_047288859.1:p.Asn3516Ser

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