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Links from Nucleotide

Items: 1 to 20 of 968

1.

rs1490033860 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:43794551 (GRCh38)
    15:44086749 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43794550:T:C
    Gene:
    SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
    Functional Consequence:
    upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1489870626 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      15:43794897 (GRCh38)
      15:44087095 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43794896:T:G
      Gene:
      SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
      Functional Consequence:
      upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1485617306 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:43794459 (GRCh38)
        15:44086657 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43794458:C:T
        Gene:
        SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
        Functional Consequence:
        upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000042/11 (TOPMED)
        HGVS:
        4.

        rs1485498211 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          15:43792076 (GRCh38)
          15:44084275 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43792076:A:AA
          Gene:
          SERF2 (Varview), SERF2-C15ORF63 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1484716813 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:43795423 (GRCh38)
            15:44087621 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43795422:T:C
            Gene:
            SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
            Functional Consequence:
            upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,2KB_upstream_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1484317774 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AGCT>- [Show Flanks]
              Chromosome:
              15:43795349 (GRCh38)
              15:44087547 (GRCh37)
              Canonical SPDI:
              NC_000015.10:43795343:TAGCTAGCT:TAGCT
              Gene:
              SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
              Functional Consequence:
              upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1482034515 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                15:43796083 (GRCh38)
                15:44088281 (GRCh37)
                Canonical SPDI:
                NC_000015.10:43796082:G:A,NC_000015.10:43796082:G:T
                Gene:
                SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000015/4 (TOPMED)
                A=0.000342/1 (KOREAN)
                A=0.000546/1 (Korea1K)
                HGVS:
                8.

                rs1481860226 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:43794624 (GRCh38)
                  15:44086822 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:43794623:T:C
                  Gene:
                  SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_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:
                  9.

                  rs1480953146 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:43794970 (GRCh38)
                    15:44087168 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:43794969:G:A
                    Gene:
                    SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
                    10.

                    rs1480878874 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      15:43795912 (GRCh38)
                      15:44088110 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:43795911:T:C,NC_000015.10:43795911:T:G
                      Gene:
                      SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      C=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1479787233 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:43795645 (GRCh38)
                        15:44087843 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:43795644:A:G
                        Gene:
                        SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1479479949 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          15:43795884 (GRCh38)
                          15:44088082 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:43795883:T:G
                          Gene:
                          SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000546/1 (Korea1K)
                          HGVS:
                          14.

                          rs1477707171 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            15:43795930 (GRCh38)
                            15:44088128 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:43795929:A:T
                            Gene:
                            SERF2 (Varview), SERINC4 (Varview), SERF2-C15ORF63 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            16.
                            19.

                            rs1472877704 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:43793014 (GRCh38)
                              15:44085212 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:43793013:A:G
                              Gene:
                              SERF2 (Varview), SERF2-C15ORF63 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              20.

                              rs1469288790 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                15:43794820 (GRCh38)
                                15:44087018 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:43794819:G:A,NC_000015.10:43794819:G:C
                                Gene:
                                SERF2 (Varview), SERINC4 (Varview), MIR1282 (Varview), SERF2-C15ORF63 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                C=0.000106/2 (TOMMO)
                                C=0.000684/2 (KOREAN)
                                C=0.001092/2 (Korea1K)
                                HGVS:

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