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Links from Nucleotide

Items: 1 to 20 of 33

1.

rs1454685334 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    8:128150174 (GRCh38)
    8:129162420 (GRCh37)
    Canonical SPDI:
    NC_000008.11:128150173:T:G
    Gene:
    MIR1208 (Varview), LOC124902020 (Varview)
    Functional Consequence:
    2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000013/3 (GnomAD_exomes)
    HGVS:
    2.

    rs1453247850 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      8:128150151 (GRCh38)
      8:129162397 (GRCh37)
      Canonical SPDI:
      NC_000008.11:128150150:G:C
      Gene:
      MIR1208 (Varview), LOC124902020 (Varview)
      Functional Consequence:
      2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
      HGVS:
      3.

      rs1380328961 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:128150130 (GRCh38)
        8:129162376 (GRCh37)
        Canonical SPDI:
        NC_000008.11:128150129:C:T
        Gene:
        MIR1208 (Varview), LOC124902020 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000035/1 (TOMMO)
        T=0.000342/1 (KOREAN)
        T=0.000546/1 (Korea1K)
        C=0.5/2 (SGDP_PRJ)
        HGVS:
        4.

        rs1350004170 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          8:128150139 (GRCh38)
          8:129162385 (GRCh37)
          Canonical SPDI:
          NC_000008.11:128150138:C:G,NC_000008.11:128150138:C:T
          Gene:
          MIR1208 (Varview), LOC124902020 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1344966169 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:128150173 (GRCh38)
            8:129162419 (GRCh37)
            Canonical SPDI:
            NC_000008.11:128150172:G:A
            Gene:
            MIR1208 (Varview), LOC124902020 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1290832755 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              8:128150177 (GRCh38)
              8:129162423 (GRCh37)
              Canonical SPDI:
              NC_000008.11:128150176:C:G,NC_000008.11:128150176:C:T
              Gene:
              MIR1208 (Varview), LOC124902020 (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)
              G=0.000004/1 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              T=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1198868897 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:128150162 (GRCh38)
                8:129162408 (GRCh37)
                Canonical SPDI:
                NC_000008.11:128150161:C:T
                Gene:
                MIR1208 (Varview), LOC124902020 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs952243205 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:128150167 (GRCh38)
                  8:129162413 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:128150166:T:C
                  Gene:
                  MIR1208 (Varview), LOC124902020 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.00003/8 (TOPMED)
                  C=0.000036/5 (GnomAD)
                  HGVS:
                  9.

                  rs889163411 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    8:128150152 (GRCh38)
                    8:129162398 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:128150151:G:T
                    Gene:
                    MIR1208 (Varview), LOC124902020 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs780796651 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      8:128150185 (GRCh38)
                      8:129162432 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:128150185:T:TT
                      Gene:
                      MIR1208 (Varview), LOC124902020 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TT=0./0 (ALFA)
                      T=0.000008/1 (ExAC)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs780440181 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:128150129 (GRCh38)
                        8:129162375 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:128150128:A:G
                        Gene:
                        MIR1208 (Varview), LOC124902020 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000028/1 (ALFA)
                        G=0.000008/1 (ExAC)
                        G=0.000011/3 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        G=0.000017/4 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs780081668 has merged into rs745702657 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GGGG>-,GGG,GGGGG [Show Flanks]
                          Chromosome:
                          8:128150190 (GRCh38)
                          8:129162436 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:128150186:GGGGGGG:GGG,NC_000008.11:128150186:GGGGGGG:GGGGGG,NC_000008.11:128150186:GGGGGGG:GGGGGGGG
                          Gene:
                          MIR1208 (Varview), LOC124902020 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GGGGGG=0./0 (ALFA)
                          -=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs776658462 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:128150148 (GRCh38)
                            8:129162394 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:128150147:A:G
                            Gene:
                            MIR1208 (Varview), LOC124902020 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            G=0.000013/3 (GnomAD_exomes)
                            G=0.000017/2 (ExAC)
                            HGVS:
                            14.

                            rs774451416 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:128150164 (GRCh38)
                              8:129162410 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:128150163:C:T
                              Gene:
                              MIR1208 (Varview), LOC124902020 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/1 (ExAC)
                              HGVS:
                              15.

                              rs771811651 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:128150136 (GRCh38)
                                8:129162382 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:128150135:A:G
                                Gene:
                                MIR1208 (Varview), LOC124902020 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/1 (ExAC)
                                G=0.000013/3 (GnomAD_exomes)
                                G=0.00005/7 (GnomAD)
                                G=0.000094/25 (TOPMED)
                                HGVS:
                                16.

                                rs769680398 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  8:128150150 (GRCh38)
                                  8:129162396 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:128150149:G:A,NC_000008.11:128150149:G:C
                                  Gene:
                                  MIR1208 (Varview), LOC124902020 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000028/1 (ALFA)
                                  A=0.000025/3 (ExAC)
                                  A=0.000026/6 (GnomAD_exomes)
                                  A=0.000029/4 (GnomAD)
                                  A=0.000212/4 (TOMMO)
                                  HGVS:
                                  17.

                                  rs761835073 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    8:128150181 (GRCh38)
                                    8:129162427 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:128150180:T:C,NC_000008.11:128150180:T:G
                                    Gene:
                                    MIR1208 (Varview), LOC124902020 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000031/1 (ALFA)
                                    G=0.000025/3 (ExAC)
                                    HGVS:
                                    18.

                                    rs757289461 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:128150119 (GRCh38)
                                      8:129162365 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:128150118:C:T
                                      Gene:
                                      MIR1208 (Varview), LOC124902020 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000056/2 (ALFA)
                                      T=0.00005/7 (GnomAD)
                                      T=0.00006/16 (TOPMED)
                                      T=0.000154/36 (GnomAD_exomes)
                                      T=0.000209/25 (ExAC)
                                      HGVS:
                                      19.

                                      rs757161204 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:128150160 (GRCh38)
                                        8:129162406 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:128150159:C:T
                                        Gene:
                                        MIR1208 (Varview), LOC124902020 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000068/3 (ALFA)
                                        T=0./0 (TWINSUK)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000017/2 (ExAC)
                                        T=0.000017/4 (GnomAD_exomes)
                                        T=0.000034/9 (TOPMED)
                                        T=0.000259/1 (ALSPAC)
                                        HGVS:
                                        20.

                                        rs756942565 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          8:128150166 (GRCh38)
                                          8:129162412 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:128150163:CTCT:CT
                                          Gene:
                                          MIR1208 (Varview), LOC124902020 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTCT=0./0 (ALFA)
                                          -=0.000004/1 (GnomAD_exomes)
                                          -=0.000008/1 (ExAC)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000495/8 (TOMMO)
                                          -=0.000546/1 (Korea1K)
                                          HGVS:

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