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Links from Nucleotide

Items: 1 to 20 of 362

1.

rs1486390272 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:119234111 (GRCh38)
    1:119776734 (GRCh37)
    Canonical SPDI:
    NC_000001.11:119234110:G:A
    Gene:
    WARS2-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000011/3 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1486334249 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:119140741 (GRCh38)
      1:119683364 (GRCh37)
      Canonical SPDI:
      NC_000001.11:119140740:C:G,NC_000001.11:119140740:C:T
      Gene:
      WARS2 (Varview), WARS2-AS1 (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=0.000008/2 (TOPMED)
      T=0.000014/2 (GnomAD)
      G=0.000546/1 (Korea1K)
      HGVS:
      3.

      rs1477477432 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:119140445 (GRCh38)
        1:119683068 (GRCh37)
        Canonical SPDI:
        NC_000001.11:119140444:G:A
        Gene:
        WARS2 (Varview), WARS2-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1477460349 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:119150746 (GRCh38)
          1:119693369 (GRCh37)
          Canonical SPDI:
          NC_000001.11:119150745:C:T
          Gene:
          WARS2-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          T=0.000036/5 (GnomAD)
          T=0.000156/1 (1000Genomes)
          HGVS:
          5.

          rs1472716059 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:119234087 (GRCh38)
            1:119776710 (GRCh37)
            Canonical SPDI:
            NC_000001.11:119234086:A:G
            Gene:
            WARS2-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1470538273 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              1:119140563 (GRCh38)
              1:119683186 (GRCh37)
              Canonical SPDI:
              NC_000001.11:119140562:C:A,NC_000001.11:119140562:C:T
              Gene:
              WARS2 (Varview), WARS2-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.00004/1 (TOMMO)
              HGVS:
              NC_000001.11:g.119140563C>A, NC_000001.11:g.119140563C>T, NC_000001.10:g.119683186C>A, NC_000001.10:g.119683186C>T, NG_050658.1:g.5226G>T, NG_050658.1:g.5226G>A, NM_015836.4:c.82G>T, NM_015836.4:c.82G>A, NM_015836.3:c.82G>T, NM_015836.3:c.82G>A, NM_201263.2:c.82G>T, NM_201263.2:c.82G>A, NM_001378227.1:c.-264G>T, NM_001378227.1:c.-264G>A, NM_001378230.1:c.-392G>T, NM_001378230.1:c.-392G>A, NM_001378226.1:c.-73G>T, NM_001378226.1:c.-73G>A, NM_001378231.1:c.82G>T, NM_001378231.1:c.82G>A, NM_001378228.1:c.82G>T, NM_001378228.1:c.82G>A, NM_001378229.1:c.82G>T, NM_001378229.1:c.82G>A, XM_024449826.2:c.-360G>T, XM_024449826.2:c.-360G>A, XM_024449826.1:c.-360G>T, XM_024449826.1:c.-360G>A, XM_024449860.2:c.-488G>T, XM_024449860.2:c.-488G>A, XM_024449860.1:c.-488G>T, XM_024449860.1:c.-488G>A, XM_017000038.2:c.82G>T, XM_017000038.2:c.82G>A, XM_017000038.1:c.82G>T, XM_017000038.1:c.82G>A, XM_047429105.1:c.82G>T, XM_047429105.1:c.82G>A, NR_125974.1:n.168C>A, NR_125974.1:n.168C>T, NR_125975.1:n.168C>A, NR_125975.1:n.168C>T, NR_125976.1:n.168C>A, NR_125976.1:n.168C>T, NR_125977.1:n.168C>A, NR_125977.1:n.168C>T, NP_056651.1:p.Ala28Ser, NP_056651.1:p.Ala28Thr, NP_957715.1:p.Ala28Ser, NP_957715.1:p.Ala28Thr, NP_001365160.1:p.Ala28Ser, NP_001365160.1:p.Ala28Thr, NP_001365157.1:p.Ala28Ser, NP_001365157.1:p.Ala28Thr, NP_001365158.1:p.Ala28Ser, NP_001365158.1:p.Ala28Thr, XP_016855527.1:p.Ala28Ser, XP_016855527.1:p.Ala28Thr, XP_047285061.1:p.Ala28Ser, XP_047285061.1:p.Ala28Thr
              7.

              rs1468506930 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                1:119140543 (GRCh38)
                1:119683166 (GRCh37)
                Canonical SPDI:
                NC_000001.11:119140542:G:C
                Gene:
                WARS2 (Varview), WARS2-AS1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1467336986 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:119150725 (GRCh38)
                  1:119693348 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:119150724:A:G
                  Gene:
                  WARS2-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1461683575 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    1:119233819 (GRCh38)
                    1:119776442 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:119233818:T:
                    Gene:
                    WARS2-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1459027346 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:119141753 (GRCh38)
                      1:119684376 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:119141752:A:G
                      Gene:
                      WARS2 (Varview), WARS2-AS1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000015/4 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1454031728 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:119140792 (GRCh38)
                        1:119683415 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:119140791:A:G
                        Gene:
                        WARS2 (Varview), WARS2-AS1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        HGVS:
                        12.

                        rs1452510801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:119233968 (GRCh38)
                          1:119776591 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:119233967:T:C
                          Gene:
                          WARS2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1450956069 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:119140649 (GRCh38)
                            1:119683272 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:119140648:A:G
                            Gene:
                            WARS2 (Varview), WARS2-AS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1450506696 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:119233832 (GRCh38)
                              1:119776455 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:119233831:G:A
                              Gene:
                              WARS2-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1435834189 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:119233537 (GRCh38)
                                1:119776160 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:119233536:G:A
                                Gene:
                                WARS2-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1432711630 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:119140674 (GRCh38)
                                  1:119683297 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:119140673:A:T
                                  Gene:
                                  WARS2 (Varview), WARS2-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                  HGVS:
                                  17.

                                  rs1432626514 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:119140549 (GRCh38)
                                    1:119683172 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:119140548:G:A
                                    Gene:
                                    WARS2 (Varview), WARS2-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1429312840 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:119140771 (GRCh38)
                                      1:119683394 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:119140770:G:A,NC_000001.11:119140770:G:T
                                      Gene:
                                      WARS2 (Varview), WARS2-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1420257897 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        1:119233712 (GRCh38)
                                        1:119776335 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:119233711:AAAAA:AAAA
                                        Gene:
                                        WARS2-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AAAA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1418860918 has merged into rs1162729328 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>-,TT [Show Flanks]
                                          Chromosome:
                                          1:119233809 (GRCh38)
                                          1:119776432 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:119233808:TTTTTT:TTTTT,NC_000001.11:119233808:TTTTTT:TTTTTTT
                                          Gene:
                                          WARS2-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTT=0./0 (ALFA)
                                          HGVS:

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