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Links from Gene

Items: 1 to 20 of 568

1.

rs1487844130 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:97364063 (GRCh38)
    9:100126345 (GRCh37)
    Canonical SPDI:
    NC_000009.12:97364062:C:T
    Gene:
    SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    T=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1486123678 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      9:97363177 (GRCh38)
      9:100125459 (GRCh37)
      Canonical SPDI:
      NC_000009.12:97363176:G:
      Gene:
      SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
      Functional Consequence:
      500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000021/3 (GnomAD)
      -=0.000026/7 (TOPMED)
      HGVS:
      3.

      rs1485749608 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:97363594 (GRCh38)
        9:100125876 (GRCh37)
        Canonical SPDI:
        NC_000009.12:97363593:T:C
        Gene:
        SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1482217873 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:97365197 (GRCh38)
          9:100127479 (GRCh37)
          Canonical SPDI:
          NC_000009.12:97365196:C:T
          Gene:
          SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1481752886 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:97365578 (GRCh38)
            9:100127860 (GRCh37)
            Canonical SPDI:
            NC_000009.12:97365577:A:G
            Gene:
            SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1481461865 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:97364701 (GRCh38)
              9:100126983 (GRCh37)
              Canonical SPDI:
              NC_000009.12:97364700:C:T
              Gene:
              SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000084/1 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1479798795 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:97363353 (GRCh38)
                9:100125635 (GRCh37)
                Canonical SPDI:
                NC_000009.12:97363352:C:A
                Gene:
                SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                Functional Consequence:
                500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1479707678 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  9:97365203 (GRCh38)
                  9:100127485 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:97365202:C:A
                  Gene:
                  SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1478162351 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    9:97364407 (GRCh38)
                    9:100126689 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:97364406:G:A,NC_000009.12:97364406:G:T
                    Gene:
                    SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.0002/3 (ALFA)
                    T=0.00067/3 (Estonian)
                    HGVS:
                    10.

                    rs1477346346 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      9:97363996 (GRCh38)
                      9:100126278 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:97363995:C:A
                      Gene:
                      SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1474833991 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:97363772 (GRCh38)
                        9:100126054 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:97363771:G:A
                        Gene:
                        SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1473368899 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:97364697 (GRCh38)
                          9:100126979 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:97364696:C:T
                          Gene:
                          SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1472390512 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:97365186 (GRCh38)
                            9:100127468 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:97365185:A:G
                            Gene:
                            SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1471069910 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              9:97364471 (GRCh38)
                              9:100126753 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:97364470:AAAA:AAA
                              Gene:
                              SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAA=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1469945424 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                9:97364019 (GRCh38)
                                9:100126301 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:97364018:C:G
                                Gene:
                                SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000031/1 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1469847067 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  9:97363661 (GRCh38)
                                  9:100125943 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:97363660:T:A,NC_000009.12:97363660:T:C
                                  Gene:
                                  SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.00005/1 (ALFA)
                                  HGVS:
                                  17.

                                  rs1468551650 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:97363530 (GRCh38)
                                    9:100125812 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:97363529:A:G
                                    Gene:
                                    SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1465488874 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      9:97364532 (GRCh38)
                                      9:100126814 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:97364531:A:C
                                      Gene:
                                      SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1465292739 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:97364271 (GRCh38)
                                        9:100126553 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:97364270:C:T
                                        Gene:
                                        SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1464809380 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:97365643 (GRCh38)
                                          9:100127925 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:97365642:C:T
                                          Gene:
                                          SUGT1P4-STRA6LP-CCDC180 (Varview), MIR1302-8 (Varview), CCDC180 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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