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Links from Nucleotide

Items: 1 to 20 of 120

1.

rs1490360909 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:53331217 (GRCh38)
    1:53796889 (GRCh37)
    Canonical SPDI:
    NC_000001.11:53331216:G:A
    Gene:
    LRP8-DT (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1484740742 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:53336471 (GRCh38)
      1:53802143 (GRCh37)
      Canonical SPDI:
      NC_000001.11:53336470:G:A
      Gene:
      LOC105378731 (Varview), LRP8-DT (Varview)
      Functional Consequence:
      non_coding_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:
      3.

      rs1483839661 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        1:53328311 (GRCh38)
        1:53793983 (GRCh37)
        Canonical SPDI:
        NC_000001.11:53328310:C:A
        Gene:
        LRP8 (Varview), LRP8-DT (Varview)
        Functional Consequence:
        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000015/4 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1483177254 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:53336265 (GRCh38)
          1:53801937 (GRCh37)
          Canonical SPDI:
          NC_000001.11:53336264:G:A
          Gene:
          LOC105378731 (Varview), LRP8-DT (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.00046/8 (TOMMO)
          HGVS:
          5.

          rs1479668655 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TCATCTTTGTCTTCA>- [Show Flanks]
            Chromosome:
            1:53331199 (GRCh38)
            1:53796871 (GRCh37)
            Canonical SPDI:
            NC_000001.11:53331198:TCATCTTTGTCTTCA:
            Gene:
            LRP8-DT (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1473395819 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:53328362 (GRCh38)
              1:53794034 (GRCh37)
              Canonical SPDI:
              NC_000001.11:53328361:G:A
              Gene:
              LRP8 (Varview), LRP8-DT (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1459317274 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:53336425 (GRCh38)
                1:53802097 (GRCh37)
                Canonical SPDI:
                NC_000001.11:53336424:T:G
                Gene:
                LOC105378731 (Varview), LRP8-DT (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1454146704 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:53336233 (GRCh38)
                  1:53801905 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:53336232:A:G
                  Gene:
                  LOC105378731 (Varview), LRP8-DT (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)
                  G=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1450929957 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:53328354 (GRCh38)
                    1:53794026 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:53328353:C:T
                    Gene:
                    LRP8 (Varview), LRP8-DT (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0./0 (GnomAD)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1448752993 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      1:53336386 (GRCh38)
                      1:53802058 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:53336385:G:A,NC_000001.11:53336385:G:T
                      Gene:
                      LOC105378731 (Varview), LRP8-DT (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1437834172 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:53336508 (GRCh38)
                        1:53802180 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:53336507:C:A
                        Gene:
                        LOC105378731 (Varview), LRP8-DT (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1436823712 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:53336361 (GRCh38)
                          1:53802033 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:53336360:C:T
                          Gene:
                          LOC105378731 (Varview), LRP8-DT (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00004/1 (TOMMO)
                          T=0.00034/1 (KOREAN)
                          HGVS:
                          13.

                          rs1430627809 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:53336221 (GRCh38)
                            1:53801893 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:53336220:C:T
                            Gene:
                            LOC105378731 (Varview), LRP8-DT (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1425374742 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:53331173 (GRCh38)
                              1:53796845 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:53331172:G:A
                              Gene:
                              LRP8-DT (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1423264877 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:53336351 (GRCh38)
                                1:53802023 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:53336350:A:G
                                Gene:
                                LOC105378731 (Varview), LRP8-DT (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=0.000023/6 (TOPMED)
                                HGVS:
                                16.

                                rs1413448526 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  1:53336429 (GRCh38)
                                  1:53802101 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:53336428:G:
                                  Gene:
                                  LOC105378731 (Varview), LRP8-DT (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1404930830 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:53328340 (GRCh38)
                                    1:53794012 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:53328339:A:C
                                    Gene:
                                    LRP8 (Varview), LRP8-DT (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1393022017 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      1:53331177 (GRCh38)
                                      1:53796849 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:53331176:C:A
                                      Gene:
                                      LRP8-DT (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1374030278 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        1:53328250 (GRCh38)
                                        1:53793922 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:53328249:G:T
                                        Gene:
                                        LRP8 (Varview), LRP8-DT (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1373885834 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          1:53331191 (GRCh38)
                                          1:53796863 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:53331190:T:A
                                          Gene:
                                          LRP8-DT (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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