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Links from Nucleotide

Items: 1 to 20 of 912

1.

rs1491034719 has merged into rs5803069 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
    Chromosome:
    13:40798293 (GRCh38)
    13:41372429 (GRCh37)
    Canonical SPDI:
    NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:40798279:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SLC25A15 (Varview), TPTE2P5 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAAAA=0.00029/3 (ALFA)
    HGVS:
    NC_000013.11:g.40798293_40798295del, NC_000013.11:g.40798294_40798295del, NC_000013.11:g.40798295del, NC_000013.11:g.40798295dup, NC_000013.11:g.40798294_40798295dup, NC_000013.11:g.40798293_40798295dup, NC_000013.11:g.40798292_40798295dup, NC_000013.11:g.40798289_40798295dup, NC_000013.10:g.41372429_41372431del, NC_000013.10:g.41372430_41372431del, NC_000013.10:g.41372431del, NC_000013.10:g.41372431dup, NC_000013.10:g.41372430_41372431dup, NC_000013.10:g.41372429_41372431dup, NC_000013.10:g.41372428_41372431dup, NC_000013.10:g.41372425_41372431dup, NG_012248.1:g.13883_13885del, NG_012248.1:g.13884_13885del, NG_012248.1:g.13885del, NG_012248.1:g.13885dup, NG_012248.1:g.13884_13885dup, NG_012248.1:g.13883_13885dup, NG_012248.1:g.13882_13885dup, NG_012248.1:g.13879_13885dup, NR_038258.1:n.3065_3067del, NR_038258.1:n.3066_3067del, NR_038258.1:n.3067del, NR_038258.1:n.3067dup, NR_038258.1:n.3066_3067dup, NR_038258.1:n.3065_3067dup, NR_038258.1:n.3064_3067dup, NR_038258.1:n.3061_3067dup, NR_038259.1:n.2894_2896del, NR_038259.1:n.2895_2896del, NR_038259.1:n.2896del, NR_038259.1:n.2896dup, NR_038259.1:n.2895_2896dup, NR_038259.1:n.2894_2896dup, NR_038259.1:n.2893_2896dup, NR_038259.1:n.2890_2896dup
    2.

    rs1490731724 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      13:40798169 (GRCh38)
      13:41372305 (GRCh37)
      Canonical SPDI:
      NC_000013.11:40798168:A:G
      Gene:
      SLC25A15 (Varview), TPTE2P5 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000014/2 (GnomAD)
      G=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1489819013 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        13:40797523 (GRCh38)
        13:41371659 (GRCh37)
        Canonical SPDI:
        NC_000013.11:40797522:T:G
        Gene:
        SLC25A15 (Varview), TPTE2P5 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1489769088 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:40797591 (GRCh38)
          13:41371727 (GRCh37)
          Canonical SPDI:
          NC_000013.11:40797590:C:T
          Gene:
          SLC25A15 (Varview), TPTE2P5 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489151176 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            13:40799276 (GRCh38)
            13:41373412 (GRCh37)
            Canonical SPDI:
            NC_000013.11:40799275:T:C
            Gene:
            SLC25A15 (Varview), TPTE2P5 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487631876 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              13:40854895 (GRCh38)
              13:41429031 (GRCh37)
              Canonical SPDI:
              NC_000013.11:40854894:A:T
              Gene:
              TPTE2P5 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1487170798 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                13:40836843 (GRCh38)
                13:41410979 (GRCh37)
                Canonical SPDI:
                NC_000013.11:40836842:G:C
                Gene:
                TPTE2P5 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1486238718 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  13:40798503 (GRCh38)
                  13:41372639 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:40798502:G:C
                  Gene:
                  SLC25A15 (Varview), TPTE2P5 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1485573813 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:40798522 (GRCh38)
                    13:41372658 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:40798521:A:G
                    Gene:
                    SLC25A15 (Varview), TPTE2P5 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000447/2 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000446/2 (Estonian)
                    HGVS:
                    10.

                    rs1484145976 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:40836620 (GRCh38)
                      13:41410756 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:40836619:A:G
                      Gene:
                      TPTE2P5 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1483944060 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:40854714 (GRCh38)
                        13:41428850 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:40854713:C:T
                        Gene:
                        TPTE2P5 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1483432537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          13:40836813 (GRCh38)
                          13:41410949 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:40836812:T:G
                          Gene:
                          TPTE2P5 (Varview)
                          Functional Consequence:
                          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:
                          13.

                          rs1482612314 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:40797128 (GRCh38)
                            13:41371264 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:40797127:G:A
                            Gene:
                            SLC25A15 (Varview), TPTE2P5 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.00007/1 (ALFA)
                            HGVS:
                            14.

                            rs1482090066 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              13:40797152 (GRCh38)
                              13:41371288 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:40797151:T:A,NC_000013.11:40797151:T:G
                              Gene:
                              SLC25A15 (Varview), TPTE2P5 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1481804428 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:40798257 (GRCh38)
                                13:41372393 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:40798256:G:A
                                Gene:
                                SLC25A15 (Varview), TPTE2P5 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1480774840 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:40800470 (GRCh38)
                                  13:41374606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:40800469:T:C
                                  Gene:
                                  SLC25A15 (Varview), TPTE2P5 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1479848304 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:40800292 (GRCh38)
                                    13:41374428 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:40800291:A:G
                                    Gene:
                                    SLC25A15 (Varview), TPTE2P5 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1479434738 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:40797725 (GRCh38)
                                      13:41371861 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:40797724:A:G
                                      Gene:
                                      SLC25A15 (Varview), TPTE2P5 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1478324139 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:40921659 (GRCh38)
                                        13:41495795 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:40921658:C:T
                                        Gene:
                                        SUGT1P3 (Varview), TPTE2P5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/2 (GnomAD_exomes)
                                        T=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1476817748 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:40797030 (GRCh38)
                                          13:41371166 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:40797029:G:A
                                          Gene:
                                          SLC25A15 (Varview), TPTE2P5 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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