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Links from Nucleotide

Items: 1 to 20 of 159

1.

rs1488056305 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:82750752 (GRCh38)
    15:83419504 (GRCh37)
    Canonical SPDI:
    NC_000015.10:82750751:T:C
    Gene:
    SNHG21 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487813682 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:82750709 (GRCh38)
      15:83419461 (GRCh37)
      Canonical SPDI:
      NC_000015.10:82750708:G:A
      Gene:
      SNHG21 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1476980710 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:82754687 (GRCh38)
        15:83423439 (GRCh37)
        Canonical SPDI:
        NC_000015.10:82754686:T:C
        Gene:
        SCARNA15 (Varview), SNHG21 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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.

        rs1475200769 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:82754931 (GRCh38)
          15:83423683 (GRCh37)
          Canonical SPDI:
          NC_000015.10:82754930:C:T
          Gene:
          FSD2 (Varview), SCARNA15 (Varview), SNHG21 (Varview)
          Functional Consequence:
          intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000057/15 (TOPMED)
          T=0.000106/2 (TOMMO)
          T=0.000546/1 (Korea1K)
          HGVS:
          5.

          rs1472494629 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:82750592 (GRCh38)
            15:83419344 (GRCh37)
            Canonical SPDI:
            NC_000015.10:82750591:G:A
            Gene:
            SNHG21 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1471973777 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:82754952 (GRCh38)
              15:83423704 (GRCh37)
              Canonical SPDI:
              NC_000015.10:82754951:T:C
              Gene:
              FSD2 (Varview), SCARNA15 (Varview), SNHG21 (Varview)
              Functional Consequence:
              intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1470756845 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:82754668 (GRCh38)
                15:83423420 (GRCh37)
                Canonical SPDI:
                NC_000015.10:82754667:T:C
                Gene:
                SCARNA15 (Varview), SNHG21 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1463501942 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  15:82750641 (GRCh38)
                  15:83419393 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:82750640:C:A
                  Gene:
                  SNHG21 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1461584224 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:82754938 (GRCh38)
                    15:83423690 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:82754937:G:A
                    Gene:
                    FSD2 (Varview), SCARNA15 (Varview), SNHG21 (Varview)
                    Functional Consequence:
                    intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1460435638 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:82754698 (GRCh38)
                      15:83423450 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:82754697:C:T
                      Gene:
                      SCARNA15 (Varview), SNHG21 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1459425870 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:82750804 (GRCh38)
                        15:83419556 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:82750803:C:T
                        Gene:
                        SNHG21 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1454223337 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:82754779 (GRCh38)
                          15:83423531 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:82754778:A:G
                          Gene:
                          SCARNA15 (Varview), SNHG21 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1448648426 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:82750601 (GRCh38)
                            15:83419353 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:82750600:C:T
                            Gene:
                            SNHG21 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1447933932 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:82754657 (GRCh38)
                              15:83423409 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:82754656:A:G
                              Gene:
                              SCARNA15 (Varview), SNHG21 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              G=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1445665458 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                15:82754842 (GRCh38)
                                15:83423594 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:82754841:A:
                                Gene:
                                SCARNA15 (Varview), SNHG21 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.000071/1 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1432752124 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:82754758 (GRCh38)
                                  15:83423510 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:82754757:T:C
                                  Gene:
                                  SCARNA15 (Varview), SNHG21 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  C=0.000495/8 (TOMMO)
                                  C=0.000684/2 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1428757958 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TGGCCGCATGGAGTGAGTACTGTCTCTGG>- [Show Flanks]
                                    Chromosome:
                                    15:82750598 (GRCh38)
                                    15:83419350 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:82750595:GGTGGCCGCATGGAGTGAGTACTGTCTCTGG:GG
                                    Gene:
                                    SNHG21 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0.000857/14 (ALFA)
                                    -=0.000861/228 (TOPMED)
                                    -=0.00087/122 (GnomAD)
                                    -=0.001116/5 (Estonian)
                                    HGVS:
                                    18.

                                    rs1427322879 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      15:82750844 (GRCh38)
                                      15:83419596 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:82750843:C:G
                                      Gene:
                                      SNHG21 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_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:
                                      19.

                                      rs1423964086 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:82750621 (GRCh38)
                                        15:83419373 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:82750620:C:T
                                        Gene:
                                        SNHG21 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1413200323 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:82750584 (GRCh38)
                                          15:83419336 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:82750583:G:A
                                          Gene:
                                          SNHG21 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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