U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 13364

1.

rs1491570595 has merged into rs3835093 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
    Chromosome:
    2:118990568 (GRCh38)
    2:119748144 (GRCh37)
    Canonical SPDI:
    NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCCC
    Gene:
    MARCO (Varview), LOC124906072 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCCCCCC=0./0 (ALFA)
    C=0.00952/20 (1000Genomes)
    -=0.27686/1067 (ALSPAC)
    -=0.27833/167 (NorthernSweden)
    -=0.28776/1067 (TWINSUK)
    -=0.34056/1523 (Estonian)
    HGVS:
    2.

    rs1491545467 has merged into rs543393291 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
      Chromosome:
      2:118991265 (GRCh38)
      2:119748841 (GRCh37)
      Canonical SPDI:
      NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
      Gene:
      MARCO (Varview), LOC124906072 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.3563/1321 (TWINSUK)
      -=0.3638/1402 (ALSPAC)
      T=0.4491/2249 (1000Genomes)
      -=0.5/20 (GENOME_DK)
      HGVS:
      3.

      rs1491525849 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        2:118958407 (GRCh38)
        2:119715983 (GRCh37)
        Canonical SPDI:
        NC_000002.12:118958406:CA:
        Gene:
        MARCO (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491447761 has merged into rs377378761 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>-,AAA,AAAA,AAAGAAAAA [Show Flanks]
          Chromosome:
          2:118986699 (GRCh38)
          2:119744275 (GRCh37)
          Canonical SPDI:
          NC_000002.12:118986697:AAA:A,NC_000002.12:118986697:AAA:AAAA,NC_000002.12:118986697:AAA:AAAAA,NC_000002.12:118986697:AAA:AAAAGAAAAA
          Gene:
          MARCO (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAA=0./0 (ALFA)
          -=0.00015/2 (TOMMO)
          HGVS:
          5.

          rs1491303660 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->TATATGTGAGAA
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491296801 has merged into rs35333881 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              2:118958419 (GRCh38)
              2:119715995 (GRCh37)
              Canonical SPDI:
              NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              MARCO (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.2079/1041 (1000Genomes)
              HGVS:
              7.

              rs1491220186 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>-,GAGA,GAGAGA [Show Flanks]
                Chromosome:
                2:118986609 (GRCh38)
                2:119744185 (GRCh37)
                Canonical SPDI:
                NC_000002.12:118986607:AGA:A,NC_000002.12:118986607:AGA:AGAGA,NC_000002.12:118986607:AGA:AGAGAGA
                Gene:
                MARCO (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                AGAGA=0./0 (ALFA)
                -=0.0002/3 (GnomAD)
                HGVS:
                8.

                rs1491205770 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GGAA [Show Flanks]
                  Chromosome:
                  2:118986608 (GRCh38)
                  2:119744185 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:118986608:GAA:GAAGGAA
                  Gene:
                  MARCO (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GAAGGAA=0./0 (ALFA)
                  GAAG=0.00005/1 (GnomAD)
                  GAAG=0.00065/12 (TOMMO)
                  HGVS:
                  9.

                  rs1491195503 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    2:118960967 (GRCh38)
                    2:119718543 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:118960964:CACA:CA
                    Gene:
                    MARCO (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CACA=0.0414/185 (ALFA)
                    -=0.0415/186 (Estonian)
                    HGVS:
                    10.

                    rs1491121928 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      2:118986698 (GRCh38)
                      2:119744275 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:118986698::G
                      Gene:
                      MARCO (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491034414 has merged into rs35141497 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                        Chromosome:
                        2:118964901 (GRCh38)
                        2:119722477 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                        Gene:
                        MARCO (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAA=0./0 (ALFA)
                        -=0.497/2489 (1000Genomes)
                        HGVS:
                        12.

                        rs1491009742 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          2:118945424 (GRCh38)
                          2:119703000 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:118945422:TCT:T
                          Gene:
                          MARCO (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00692/113 (ALFA)
                          -=0.00238/40 (TOMMO)
                          HGVS:
                          13.

                          rs1491005116 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            2:118945703 (GRCh38)
                            2:119703279 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:118945702:TA:
                            Gene:
                            MARCO (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.003803/17 (ALFA)
                            -=0.000546/1 (Korea1K)
                            -=0.001718/11 (1000Genomes)
                            -=0.002632/369 (GnomAD)
                            -=0.003795/17 (Estonian)
                            HGVS:
                            14.

                            rs1491003500 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:118983122 (GRCh38)
                              2:119740698 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:118983121:T:C
                              Gene:
                              MARCO (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490973727 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:118985682 (GRCh38)
                                2:119743258 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:118985681:G:A
                                Gene:
                                MARCO (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                A=0.000319/5 (TOMMO)
                                HGVS:
                                16.

                                rs1490952956 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  2:118981030 (GRCh38)
                                  2:119738606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:118981029:T:A
                                  Gene:
                                  MARCO (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490919374 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:118950244 (GRCh38)
                                    2:119707820 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:118950243:C:T
                                    Gene:
                                    MARCO (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490893115 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      2:118947990 (GRCh38)
                                      2:119705566 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:118947989:TTT:TT
                                      Gene:
                                      MARCO (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0.00009/1 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490862557 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:118949630 (GRCh38)
                                        2:119707206 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:118949629:T:C
                                        Gene:
                                        MARCO (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490744163 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          A>- [Show Flanks]
                                          Chromosome:
                                          2:118956680 (GRCh38)
                                          2:119714256 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:118956679:AAA:AA
                                          Gene:
                                          MARCO (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AA=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...