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Links from Nucleotide

Items: 1 to 20 of 605

1.

rs1486854112 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:194760453 (GRCh38)
    2:195625177 (GRCh37)
    Canonical SPDI:
    NC_000002.12:194760452:A:G
    Gene:
    LINC01790 (Varview), LOC105376755 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1486818351 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      2:194761246 (GRCh38)
      2:195625970 (GRCh37)
      Canonical SPDI:
      NC_000002.12:194761245:A:C
      Gene:
      LINC01790 (Varview), LOC105376755 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1484935772 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:194730615 (GRCh38)
        2:195595339 (GRCh37)
        Canonical SPDI:
        NC_000002.12:194730614:T:C
        Gene:
        LINC01790 (Varview), LOC105376755 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1482334002 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:194760287 (GRCh38)
          2:195625011 (GRCh37)
          Canonical SPDI:
          NC_000002.12:194760286:A:G
          Gene:
          LINC01790 (Varview), LOC105376755 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
          HGVS:
          5.

          rs1481938220 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:194760095 (GRCh38)
            2:195624819 (GRCh37)
            Canonical SPDI:
            NC_000002.12:194760094:T:C
            Gene:
            LINC01790 (Varview), LOC105376755 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000023/6 (TOPMED)
            C=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1481812566 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              2:194759588 (GRCh38)
              2:195624312 (GRCh37)
              Canonical SPDI:
              NC_000002.12:194759587:G:C
              Gene:
              LINC01790 (Varview), LOC105376755 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,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:
              7.

              rs1479822202 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                2:194736245 (GRCh38)
                2:195600969 (GRCh37)
                Canonical SPDI:
                NC_000002.12:194736244:C:G,NC_000002.12:194736244:C:T
                Gene:
                LINC01790 (Varview), LOC105376755 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1479345029 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  2:194730650 (GRCh38)
                  2:195595374 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:194730649:CCC:CC
                  Gene:
                  LINC01790 (Varview), LOC105376755 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0.000071/1 (ALFA)
                  -=0.000034/9 (TOPMED)
                  -=0.000036/5 (GnomAD)
                  HGVS:
                  9.

                  rs1476010095 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:194744585 (GRCh38)
                    2:195609309 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:194744584:C:T
                    Gene:
                    LINC01790 (Varview), LOC105376755 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000042/11 (TOPMED)
                    T=0.000057/8 (GnomAD)
                    HGVS:
                    10.

                    rs1475772007 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:194761075 (GRCh38)
                      2:195625799 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:194761074:T:C
                      Gene:
                      LINC01790 (Varview), LOC105376755 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_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:
                      11.

                      rs1475410701 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:194760982 (GRCh38)
                        2:195625706 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:194760981:A:G
                        Gene:
                        LINC01790 (Varview), LOC105376755 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1472313998 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          2:194760304 (GRCh38)
                          2:195625028 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:194760303:TT:
                          Gene:
                          LINC01790 (Varview), LOC105376755 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000071/1 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1471613678 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AGTG [Show Flanks]
                            Chromosome:
                            2:194759184 (GRCh38)
                            2:195623909 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:194759184:GTGAGTG:GTGAGTGAGTG
                            Gene:
                            LINC01790 (Varview), LOC105376755 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GTGAGTGAGTG=0.000071/1 (ALFA)
                            GTGA=0.000007/1 (GnomAD)
                            GTGA=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1471000176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:194761213 (GRCh38)
                              2:195625937 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:194761212:A:G
                              Gene:
                              LINC01790 (Varview), LOC105376755 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_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:
                              15.

                              rs1470212613 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:194759835 (GRCh38)
                                2:195624559 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:194759834:T:C
                                Gene:
                                LINC01790 (Varview), LOC105376755 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000342/1 (KOREAN)
                                HGVS:
                                16.

                                rs1467721568 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  2:194759178 (GRCh38)
                                  2:195623902 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:194759177:G:C
                                  Gene:
                                  LINC01790 (Varview), LOC105376755 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1466666726 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    2:194761194 (GRCh38)
                                    2:195625918 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:194761193:T:A
                                    Gene:
                                    LINC01790 (Varview), LOC105376755 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1466229811 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:194759310 (GRCh38)
                                      2:195624034 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:194759309:C:T
                                      Gene:
                                      LINC01790 (Varview), LOC105376755 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1464997165 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->AACATTTAGCAGTT [Show Flanks]
                                        Chromosome:
                                        2:194760064 (GRCh38)
                                        2:195624789 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:194760064:TTAACATTTAGCAGTT:TTAACATTTAGCAGTTAACATTTAGCAGTT
                                        Gene:
                                        LINC01790 (Varview), LOC105376755 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTAACATTTAGCAGTTAACATTTAGCAGTT=0.000169/2 (ALFA)
                                        TTAACATTTAGCAG=0.000007/1 (GnomAD)
                                        TTAACATTTAGCAG=0.000283/5 (TOMMO)
                                        TTAACATTTAGCAG=0.000468/3 (1000Genomes)
                                        TTAACATTTAGCAG=0.004367/8 (Korea1K)
                                        TTAACATTTAGCAG=0.00463/1 (Vietnamese)
                                        HGVS:
                                        20.

                                        rs1464469283 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          2:194759637 (GRCh38)
                                          2:195624361 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:194759636:G:A,NC_000002.12:194759636:G:T
                                          Gene:
                                          LINC01790 (Varview), LOC105376755 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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