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 27482

1.

rs1491583623 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    8:142516558 (GRCh38)
    8:143597919 (GRCh37)
    Canonical SPDI:
    NC_000008.11:142516557:AT:
    Gene:
    ADGRB1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00005/6 (GnomAD)
    HGVS:
    2.

    rs1491575589 has merged into rs1156247964 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
      Chromosome:
      8:142449622 (GRCh38)
      8:143530983 (GRCh37)
      Canonical SPDI:
      NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
      Gene:
      ADGRB1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCCCCCCCCC=0./0 (ALFA)
      HGVS:
      3.

      rs1491542145 has merged into rs376323433 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGT>-,GT,GTGTGT [Show Flanks]
        Chromosome:
        8:142469459 (GRCh38)
        8:143550820 (GRCh37)
        Canonical SPDI:
        NC_000008.11:142469455:TGTGTGT:TGT,NC_000008.11:142469455:TGTGTGT:TGTGT,NC_000008.11:142469455:TGTGTGT:TGTGTGTGT
        Gene:
        ADGRB1 (Varview), LOC124902075 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGT=0./0 (ALFA)
        -=0.00078/4 (1000Genomes)
        HGVS:
        4.

        rs1491534356 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTAGGGTGG [Show Flanks]
          Chromosome:
          8:142502196 (GRCh38)
          8:143583558 (GRCh37)
          Canonical SPDI:
          NC_000008.11:142502196:G:GGTAGGGTGG
          Gene:
          ADGRB1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1491516869 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            8:142470541 (GRCh38)
            8:143551902 (GRCh37)
            Canonical SPDI:
            NC_000008.11:142470540:CT:
            Gene:
            ADGRB1 (Varview), LOC124902075 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1491497139 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>- [Show Flanks]
              Chromosome:
              8:142499600 (GRCh38)
              8:143580961 (GRCh37)
              Canonical SPDI:
              NC_000008.11:142499598:GGG:G
              Gene:
              ADGRB1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              -=0.000019/5 (TOPMED)
              -=0.000052/7 (GnomAD)
              HGVS:
              7.

              rs1491495211 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->AGGTGT
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491491626 has merged into rs763098191 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGTGT>-,GT,GTGT,GTGTGTGT [Show Flanks]
                  Chromosome:
                  8:142469611 (GRCh38)
                  8:143550972 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:142469607:TGTGTGTGT:TGT,NC_000008.11:142469607:TGTGTGTGT:TGTGT,NC_000008.11:142469607:TGTGTGTGT:TGTGTGT,NC_000008.11:142469607:TGTGTGTGT:TGTGTGTGTGT
                  Gene:
                  ADGRB1 (Varview), LOC124902075 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTGTGTGTGT=0./0 (ALFA)
                  -=0.001092/2 (Korea1K)
                  -=0.003633/14 (ALSPAC)
                  -=0.004/67 (TOMMO)
                  -=0.004932/601 (GnomAD)
                  -=0.007551/28 (TWINSUK)
                  HGVS:
                  9.

                  rs1491456508 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GAGCG [Show Flanks]
                    Chromosome:
                    8:142499599 (GRCh38)
                    8:143580961 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:142499599:GGAGCG:GGAGCGGAGCG
                    Gene:
                    ADGRB1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GGAGCGGAGCG=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491445247 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AT>- [Show Flanks]
                      Chromosome:
                      8:142469589 (GRCh38)
                      8:143550950 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:142469588:AT:
                      Gene:
                      ADGRB1 (Varview), LOC124902075 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00003/3 (GnomAD)
                      HGVS:
                      11.

                      rs1491440303 has merged into rs202096364 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGTG>-,TG,TGTGTG [Show Flanks]
                        Chromosome:
                        8:142469596 (GRCh38)
                        8:143550957 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:142469589:TGTGTGTGTG:TGTGTG,NC_000008.11:142469589:TGTGTGTGTG:TGTGTGTG,NC_000008.11:142469589:TGTGTGTGTG:TGTGTGTGTGTG
                        Gene:
                        ADGRB1 (Varview), LOC124902075 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTG=0./0 (ALFA)
                        -=0.00014/2 (TOMMO)
                        -=0.001/1 (GoNL)
                        -=0.01058/53 (1000Genomes)
                        HGVS:
                        12.

                        rs1491347663 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          8:142478817 (GRCh38)
                          8:143560178 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:142478816:GGG:GG
                          Gene:
                          ADGRB1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1491321515 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            8:142527774 (GRCh38)
                            8:143609135 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:142527773:AG:
                            Gene:
                            ADGRB1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.000071/1 (ALFA)
                            -=0.000035/1 (TOMMO)
                            -=0.000043/6 (GnomAD)
                            -=0.000072/19 (TOPMED)
                            HGVS:
                            14.

                            rs1491228662 has merged into rs1352521859 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TG>-,TGTG [Show Flanks]
                              Chromosome:
                              8:142469578 (GRCh38)
                              8:143550939 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:142469573:TGTGTG:TGTG,NC_000008.11:142469573:TGTGTG:TGTGTGTG
                              Gene:
                              ADGRB1 (Varview), LOC124902075 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TGTGTGTG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491203876 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GG>- [Show Flanks]
                                Chromosome:
                                8:142516642 (GRCh38)
                                8:143598003 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:142516641:GG:
                                Gene:
                                ADGRB1 (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1491149672 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  8:142502196 (GRCh38)
                                  8:143583557 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:142502195:AG:
                                  Gene:
                                  ADGRB1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491108974 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A,G [Show Flanks]
                                    Chromosome:
                                    8:142449612 (GRCh38)
                                    8:143530974 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:142449612::A,NC_000008.11:142449612::G
                                    Gene:
                                    ADGRB1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.00001/1 (GnomAD)
                                    G=0.00025/3 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491098483 has merged into rs146929982 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TGTG>-,TG,TGTGTG [Show Flanks]
                                      Chromosome:
                                      8:142516569 (GRCh38)
                                      8:143597930 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:142516558:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000008.11:142516558:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000008.11:142516558:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
                                      Gene:
                                      ADGRB1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TGTGTGTGTGTG=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491083358 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        8:142502302 (GRCh38)
                                        8:143583663 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:142502301:AG:
                                        Gene:
                                        ADGRB1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.000122/2 (ALFA)
                                        -=0.000278/35 (GnomAD)
                                        -=0.005/3 (NorthernSweden)
                                        HGVS:
                                        20.

                                        rs1491065202 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->AT,ATGT [Show Flanks]
                                          Chromosome:
                                          8:142469480 (GRCh38)
                                          8:143550842 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:142469480::AT,NC_000008.11:142469480::ATGT
                                          Gene:
                                          ADGRB1 (Varview), LOC124902075 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          ATGT=0./0 (ALFA)
                                          ATGT=0.00001/1 (GnomAD)
                                          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...