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Links from Nucleotide

Items: 1 to 20 of 193

1.

rs1490336267 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    4:201183 (GRCh38)
    4:194972 (GRCh37)
    Canonical SPDI:
    NC_000004.12:201182:G:A,NC_000004.12:201182:G:T
    Gene:
    ZNF718 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    A=0.000106/2 (TOMMO)
    HGVS:
    2.

    rs1488876262 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      4:201749 (GRCh38)
      4:195538 (GRCh37)
      Canonical SPDI:
      NC_000004.12:201748:C:G
      Gene:
      ZNF718 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1485582336 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:201897 (GRCh38)
        4:195686 (GRCh37)
        Canonical SPDI:
        NC_000004.12:201896:A:G
        Gene:
        ZNF718 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1484438405 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          4:202101 (GRCh38)
          4:195890 (GRCh37)
          Canonical SPDI:
          NC_000004.12:202100:G:A,NC_000004.12:202100:G:T
          Gene:
          ZNF718 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1484397060 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            4:124601 (GRCh38)
            4:124483 (GRCh37)
            Canonical SPDI:
            NC_000004.12:124600:T:G
            Gene:
            ZNF718 (Varview), LOC124900641 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1483679874 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:202224 (GRCh38)
              4:196013 (GRCh37)
              Canonical SPDI:
              NC_000004.12:202223:G:A
              Gene:
              ZNF718 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,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:
              7.

              rs1479293129 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:201744 (GRCh38)
                4:195533 (GRCh37)
                Canonical SPDI:
                NC_000004.12:201743:G:A
                Gene:
                ZNF718 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1467330204 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  4:202055 (GRCh38)
                  4:195844 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:202054:C:A,NC_000004.12:202054:C:G
                  Gene:
                  ZNF718 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_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.

                  rs1461858907 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:124478 (GRCh38)
                    4:124360 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:124477:G:A
                    Gene:
                    ZNF718 (Varview), LOC124900641 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_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:
                    10.

                    rs1459667237 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      4:202290 (GRCh38)
                      4:196079 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:202289:C:A
                      Gene:
                      ZNF718 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1452985541 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:124523 (GRCh38)
                        4:124405 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:124522:C:T
                        Gene:
                        ZNF718 (Varview), LOC124900641 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1448445767 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:124505 (GRCh38)
                          4:124387 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:124504:T:C
                          Gene:
                          ZNF718 (Varview), LOC124900641 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1446878385 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            4:124586 (GRCh38)
                            4:124468 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:124585:C:G
                            Gene:
                            ZNF718 (Varview), LOC124900641 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1446456468 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              4:201165 (GRCh38)
                              4:194954 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:201164:C:G
                              Gene:
                              ZNF718 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_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)
                              HGVS:
                              15.

                              rs1434869376 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TA [Show Flanks]
                                Chromosome:
                                4:201867 (GRCh38)
                                4:195657 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:201867:ATATA:ATATATA
                                Gene:
                                ZNF718 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATA=0./0 (ALFA)
                                AT=0.000004/1 (TOPMED)
                                AT=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1429341419 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  4:201786 (GRCh38)
                                  4:195575 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:201785:T:G
                                  Gene:
                                  ZNF718 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1428310372 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    4:201837 (GRCh38)
                                    4:195626 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:201836:G:A,NC_000004.12:201836:G:T
                                    Gene:
                                    ZNF718 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000015/4 (TOPMED)
                                    T=0.000029/4 (GnomAD)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1428048201 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:202065 (GRCh38)
                                      4:195854 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:202064:G:A
                                      Gene:
                                      ZNF718 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1425974611 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:202208 (GRCh38)
                                        4:195997 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:202207:C:T
                                        Gene:
                                        ZNF718 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1423892425 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:201124 (GRCh38)
                                          4:194913 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:201123:C:T
                                          Gene:
                                          ZNF718 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:

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