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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491570090 has merged into rs35077404 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    3:42644988 (GRCh38)
    3:42686480 (GRCh37)
    Canonical SPDI:
    NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    NKTR (Varview), ZBTB47-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGTGTGT=0./0 (ALFA)
    -=0.000023/6 (TOPMED)
    TG=0.225/9 (GENOME_DK)
    TG=0.299521/1500 (1000Genomes)
    HGVS:
    2.

    rs1491515844 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      3:42603041 (GRCh38)
      3:42644533 (GRCh37)
      Canonical SPDI:
      NC_000003.12:42603039:AGA:A
      Gene:
      NKTR (Varview), SEC22C (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000084/1 (ALFA)
      -=0.000051/7 (GnomAD)
      HGVS:
      5.

      rs1491309702 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        3:42603040 (GRCh38)
        3:42644533 (GRCh37)
        Canonical SPDI:
        NC_000003.12:42603040:G:GG
        Gene:
        NKTR (Varview), SEC22C (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        GG=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        6.

        rs1491281163 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          3:42619015 (GRCh38)
          3:42660507 (GRCh37)
          Canonical SPDI:
          NC_000003.12:42619014:TC:
          Gene:
          NKTR (Varview), ZBTB47-AS1 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          7.

          rs1491241931 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            3:42611749 (GRCh38)
            3:42653241 (GRCh37)
            Canonical SPDI:
            NC_000003.12:42611748:AT:
            Gene:
            NKTR (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000043/6 (GnomAD)
            HGVS:
            8.

            rs1491235768 has merged into rs58779310 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTTAAAAACAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              3:42635067 (GRCh38)
              3:42676559 (GRCh37)
              Canonical SPDI:
              NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAACAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              NKTR (Varview), ZBTB47-AS1 (Varview)
              Functional Consequence:
              intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              AAAA=0.4752/2380 (1000Genomes)
              HGVS:
              NC_000003.12:g.42635067_42635078del, NC_000003.12:g.42635069_42635078del, NC_000003.12:g.42635071_42635078del, NC_000003.12:g.42635072_42635078del, NC_000003.12:g.42635073_42635078del, NC_000003.12:g.42635074_42635078del, NC_000003.12:g.42635075_42635078del, NC_000003.12:g.42635076_42635078del, NC_000003.12:g.42635077_42635078del, NC_000003.12:g.42635078del, NC_000003.12:g.42635078dup, NC_000003.12:g.42635077_42635078dup, NC_000003.12:g.42635076_42635078dup, NC_000003.12:g.42635075_42635078dup, NC_000003.12:g.42635074_42635078dup, NC_000003.12:g.42635073_42635078dup, NC_000003.12:g.42635072_42635078dup, NC_000003.12:g.42635071_42635078dup, NC_000003.12:g.42635060_42635078dup, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635058_42635078A[25]TTTAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.42676559_42676570del, NC_000003.11:g.42676561_42676570del, NC_000003.11:g.42676563_42676570del, NC_000003.11:g.42676564_42676570del, NC_000003.11:g.42676565_42676570del, NC_000003.11:g.42676566_42676570del, NC_000003.11:g.42676567_42676570del, NC_000003.11:g.42676568_42676570del, NC_000003.11:g.42676569_42676570del, NC_000003.11:g.42676570del, NC_000003.11:g.42676570dup, NC_000003.11:g.42676569_42676570dup, NC_000003.11:g.42676568_42676570dup, NC_000003.11:g.42676567_42676570dup, NC_000003.11:g.42676566_42676570dup, NC_000003.11:g.42676565_42676570dup, NC_000003.11:g.42676564_42676570dup, NC_000003.11:g.42676563_42676570dup, NC_000003.11:g.42676552_42676570dup, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676550_42676570A[25]TTTAAAAACAAAAAAAAAAAAAAAAAAAAAA[1]
              9.

              rs1491223980 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                3:42644680 (GRCh38)
                3:42686172 (GRCh37)
                Canonical SPDI:
                NC_000003.12:42644677:CTCT:CT
                Gene:
                NKTR (Varview), ZBTB47-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTCT=0./0 (ALFA)
                -=0.000014/2 (GnomAD)
                -=0.000026/7 (TOPMED)
                -=0.004673/1 (Vietnamese)
                HGVS:
                10.

                rs1491144130 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  3:42635057 (GRCh38)
                  3:42676549 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:42635056:TA:
                  Gene:
                  NKTR (Varview), ZBTB47-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00025/3 (ALFA)
                  HGVS:
                  11.

                  rs1491140599 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    3:42644678 (GRCh38)
                    3:42686171 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:42644678:T:TT
                    Gene:
                    NKTR (Varview), ZBTB47-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TT=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    12.

                    rs1490977608 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      3:42631406 (GRCh38)
                      3:42672899 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:42631406:A:AA
                      Gene:
                      NKTR (Varview), ZBTB47-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      HGVS:
                      14.

                      rs1490727387 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        3:42623737 (GRCh38)
                        3:42665229 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:42623736:T:A
                        Gene:
                        NKTR (Varview), ZBTB47-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        15.

                        rs1490701946 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:42622541 (GRCh38)
                          3:42664033 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:42622540:A:G
                          Gene:
                          NKTR (Varview), ZBTB47-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          16.

                          rs1490657086 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:42600369 (GRCh38)
                            3:42641861 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:42600368:A:G
                            Gene:
                            NKTR (Varview), SEC22C (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000026/7 (TOPMED)
                            G=0.000029/4 (GnomAD)
                            HGVS:
                            18.

                            rs1490635244 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              3:42600882 (GRCh38)
                              3:42642374 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:42600881:T:G
                              Gene:
                              NKTR (Varview), SEC22C (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              HGVS:
                              19.

                              rs1490626449 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:42632854 (GRCh38)
                                3:42674346 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:42632853:T:C
                                Gene:
                                NKTR (Varview), ZBTB47-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                20.

                                rs1490578968 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  TTTA>-
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:

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