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Items: 1 to 20 of 2958

1.

rs1491108031 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->A
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1490869278 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      16:66603586 (GRCh38)
      16:66637489 (GRCh37)
      Canonical SPDI:
      NC_000016.10:66603585:C:G,NC_000016.10:66603585:C:T
      Gene:
      CMTM3 (Varview), CMTM4 (Varview)
      Functional Consequence:
      2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490784393 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:66609880 (GRCh38)
        16:66643783 (GRCh37)
        Canonical SPDI:
        NC_000016.10:66609879:C:T
        Gene:
        CMTM3 (Varview), CMTM4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490768570 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:66610964 (GRCh38)
          16:66644867 (GRCh37)
          Canonical SPDI:
          NC_000016.10:66610963:G:A
          Gene:
          CMTM3 (Varview), CMTM4 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1490603811 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:66610479 (GRCh38)
            16:66644382 (GRCh37)
            Canonical SPDI:
            NC_000016.10:66610478:C:T
            Gene:
            CMTM3 (Varview), CMTM4 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000029/4 (GnomAD)
            T=0.000034/9 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1490097010 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:66602124 (GRCh38)
              16:66636027 (GRCh37)
              Canonical SPDI:
              NC_000016.10:66602123:C:T
              Gene:
              CMTM3 (Varview), CMTM4 (Varview)
              Functional Consequence:
              2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1489802186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:66608892 (GRCh38)
                16:66642795 (GRCh37)
                Canonical SPDI:
                NC_000016.10:66608891:G:T
                Gene:
                CMTM3 (Varview), CMTM4 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489319228 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  16:66603501 (GRCh38)
                  16:66637404 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:66603500:C:G
                  Gene:
                  CMTM3 (Varview), CMTM4 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488868220 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:66607195 (GRCh38)
                    16:66641098 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:66607194:C:T
                    Gene:
                    CMTM3 (Varview), CMTM4 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488137481 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      16:66607800 (GRCh38)
                      16:66641703 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:66607799:G:C
                      Gene:
                      CMTM3 (Varview), CMTM4 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      HGVS:
                      11.

                      rs1488123349 has merged into rs944454339 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GAGA>-,GA,GAGAGA,GAGAGAGAGA [Show Flanks]
                        Chromosome:
                        16:66604060 (GRCh38)
                        16:66637963 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA
                        Gene:
                        CMTM3 (Varview), CMTM4 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GAGAGAGA=0.000055/1 (ALFA)
                        -=0.000057/15 (TOPMED)
                        GAGAGA=0.000179/3 (TOMMO)
                        HGVS:
                        NC_000016.10:g.66604052GA[4], NC_000016.10:g.66604052GA[5], NC_000016.10:g.66604052GA[7], NC_000016.10:g.66604052GA[9], NC_000016.9:g.66637955GA[4], NC_000016.9:g.66637955GA[5], NC_000016.9:g.66637955GA[7], NC_000016.9:g.66637955GA[9], NM_144601.5:c.-579GA[4], NM_144601.5:c.-579GA[5], NM_144601.5:c.-579GA[7], NM_144601.5:c.-579GA[9], NM_144601.4:c.-579GA[4], NM_144601.4:c.-579GA[5], NM_144601.4:c.-579GA[7], NM_144601.4:c.-579GA[9], NM_001363923.2:c.-506GA[4], NM_001363923.2:c.-506GA[5], NM_001363923.2:c.-506GA[7], NM_001363923.2:c.-506GA[9], NM_001363923.1:c.-506GA[4], NM_001363923.1:c.-506GA[5], NM_001363923.1:c.-506GA[7], NM_001363923.1:c.-506GA[9], NM_001363918.2:c.-473GA[4], NM_001363918.2:c.-473GA[5], NM_001363918.2:c.-473GA[7], NM_001363918.2:c.-473GA[9], NM_001363918.1:c.-473GA[4], NM_001363918.1:c.-473GA[5], NM_001363918.1:c.-473GA[7], NM_001363918.1:c.-473GA[9], NR_037613.1:n.21GA[4], NR_037613.1:n.21GA[5], NR_037613.1:n.21GA[7], NR_037613.1:n.21GA[9]
                        12.

                        rs1488111988 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          16:66608729 (GRCh38)
                          16:66642632 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:66608728:G:C,NC_000016.10:66608728:G:T
                          Gene:
                          CMTM3 (Varview), CMTM4 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1487974291 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            16:66604401 (GRCh38)
                            16:66638304 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:66604400:C:A
                            Gene:
                            CMTM3 (Varview), CMTM4 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.0005/1 (Korea1K)
                            HGVS:
                            14.

                            rs1487952724 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              16:66606887 (GRCh38)
                              16:66640790 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:66606886:G:T
                              Gene:
                              CMTM3 (Varview), CMTM4 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1487628513 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                16:66606467 (GRCh38)
                                16:66640370 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:66606466:C:T
                                Gene:
                                CMTM3 (Varview), CMTM4 (Varview)
                                Functional Consequence:
                                genic_downstream_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:
                                16.

                                rs1487620711 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  C>A
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1487620082 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    16:66608508 (GRCh38)
                                    16:66642411 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:66608507:T:C,NC_000016.10:66608507:T:G
                                    Gene:
                                    CMTM3 (Varview), CMTM4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487554892 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ATCT>- [Show Flanks]
                                      Chromosome:
                                      16:66607481 (GRCh38)
                                      16:66641384 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:66607475:TATCTATCT:TATCT
                                      Gene:
                                      CMTM3 (Varview), CMTM4 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TATCT=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487524668 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:66607347 (GRCh38)
                                        16:66641250 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:66607346:A:G
                                        Gene:
                                        CMTM3 (Varview), CMTM4 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:

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