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Links from Nucleotide

Items: 1 to 20 of 201150

4.

rs781780458 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:32222337 (GRCh38)
    6:32190114 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32222336:G:A
    Gene:
    NOTCH4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000142/2 (ALFA)
    A=0./0 (TWINSUK)
    A=0.000057/8 (GnomAD)
    A=0.000087/23 (TOPMED)
    A=0.000519/2 (ALSPAC)
    HGVS:
    5.

    rs781779306 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:33196351 (GRCh38)
      6:33164128 (GRCh37)
      Canonical SPDI:
      NC_000006.12:33196350:G:A
      Gene:
      RXRB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000012/3 (GnomAD_exomes)
      A=0.000017/2 (ExAC)
      HGVS:
      6.

      rs781778776 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        6:31275108 (GRCh38)
        6:31242885 (GRCh37)
        Canonical SPDI:
        NC_000006.12:31275107:T:
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000378/7 (ALFA)
        -=0./0 (ALSPAC)
        -=0.00014/37 (TOPMED)
        -=0.000171/24 (GnomAD)
        -=0.00027/1 (TWINSUK)
        -=0.008333/5 (NorthernSweden)
        HGVS:
        7.

        rs781778712 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:32839120 (GRCh38)
          6:32806897 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32839119:T:C
          Gene:
          TAP2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0./0 (ALSPAC)
          C=0.000004/1 (TOPMED)
          C=0.000021/3 (GnomAD)
          C=0.00027/1 (TWINSUK)
          HGVS:
          8.

          rs781778481 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:32584106 (GRCh38)
            6:32551883 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32584105:C:T
            Gene:
            HLA-DRB1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.00008/1 (ALFA)
            T=0.00003/1 (ExAC)
            HGVS:
            11.

            rs781776541 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              6:30249986 (GRCh38)
              6:30217763 (GRCh37)
              Canonical SPDI:
              NC_000006.12:30249985:C:
              Gene:
              HCG17 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.034134/472 (ALFA)
              -=0.00006/1 (TOMMO)
              -=0.077451/9023 (GnomAD)
              -=0.106488/476 (Estonian)
              -=0.333333/10 (GENOME_DK)
              HGVS:
              12.

              rs781776004 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                6:31939914 (GRCh38)
                6:31907691 (GRCh37)
                Canonical SPDI:
                NC_000006.12:31939913:T:A
                Gene:
                C2 (Varview), C2-AS1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0./0 (TWINSUK)
                A=0.000004/1 (TOPMED)
                A=0.000259/1 (ALSPAC)
                HGVS:
                14.

                rs781774655 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTAA>- [Show Flanks]
                  Chromosome:
                  6:28969031 (GRCh38)
                  6:28936808 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:28969026:TTAATTAA:TTAA
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTAATTAA=0.00243/45 (ALFA)
                  -=0.000457/121 (TOPMED)
                  -=0.002524/354 (GnomAD)
                  -=0.007589/34 (Estonian)
                  HGVS:
                  17.

                  rs781772291 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    6:30672928 (GRCh38)
                    6:30640705 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:30672927:T:G
                    Gene:
                    DHX16 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000006/1 (GnomAD_exomes)
                    G=0.00003/1 (ExAC)
                    HGVS:
                    19.
                    20.

                    rs781770046 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:29173884 (GRCh38)
                      6:29141661 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:29173883:G:A
                      Gene:
                      OR2J2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000012/3 (GnomAD_exomes)
                      A=0.000017/2 (ExAC)
                      HGVS:

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