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 2016

1.

rs1491294614 has merged into rs71195130 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    4:52860635 (GRCh38)
    4:53726802 (GRCh37)
    Canonical SPDI:
    NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:52860621:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    RASL11B (Varview), LOC124900700 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGTGT=0./0 (ALFA)
    TGTGTGTGTGTG=0./0 (GENOME_DK)
    HGVS:
    NC_000004.12:g.52860623GT[6], NC_000004.12:g.52860623GT[7], NC_000004.12:g.52860623GT[8], NC_000004.12:g.52860623GT[9], NC_000004.12:g.52860623GT[10], NC_000004.12:g.52860623GT[11], NC_000004.12:g.52860623GT[12], NC_000004.12:g.52860623GT[13], NC_000004.12:g.52860623GT[14], NC_000004.12:g.52860623GT[15], NC_000004.12:g.52860623GT[17], NC_000004.12:g.52860623GT[18], NC_000004.12:g.52860623GT[19], NC_000004.12:g.52860623GT[20], NC_000004.12:g.52860623GT[21], NC_000004.12:g.52860623GT[22], NC_000004.12:g.52860623GT[23], NC_000004.12:g.52860623GT[24], NC_000004.12:g.52860623GT[25], NC_000004.12:g.52860623GT[26], NC_000004.12:g.52860623GT[27], NC_000004.12:g.52860623GT[28], NC_000004.12:g.52860623GT[29], NC_000004.12:g.52860623GT[30], NC_000004.11:g.53726790GT[6], NC_000004.11:g.53726790GT[7], NC_000004.11:g.53726790GT[8], NC_000004.11:g.53726790GT[9], NC_000004.11:g.53726790GT[10], NC_000004.11:g.53726790GT[11], NC_000004.11:g.53726790GT[12], NC_000004.11:g.53726790GT[13], NC_000004.11:g.53726790GT[14], NC_000004.11:g.53726790GT[15], NC_000004.11:g.53726790GT[17], NC_000004.11:g.53726790GT[18], NC_000004.11:g.53726790GT[19], NC_000004.11:g.53726790GT[20], NC_000004.11:g.53726790GT[21], NC_000004.11:g.53726790GT[22], NC_000004.11:g.53726790GT[23], NC_000004.11:g.53726790GT[24], NC_000004.11:g.53726790GT[25], NC_000004.11:g.53726790GT[26], NC_000004.11:g.53726790GT[27], NC_000004.11:g.53726790GT[28], NC_000004.11:g.53726790GT[29], NC_000004.11:g.53726790GT[30]
    2.

    rs1491147692 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CG [Show Flanks]
      Chromosome:
      4:52860622 (GRCh38)
      4:53726790 (GRCh37)
      Canonical SPDI:
      NC_000004.12:52860622:G:GCG
      Gene:
      RASL11B (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      GCG=0./0 (ALFA)
      GC=0.01402/3 (GnomAD)
      HGVS:
      3.

      rs1490940052 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:52862387 (GRCh38)
        4:53728554 (GRCh37)
        Canonical SPDI:
        NC_000004.12:52862386:T:C
        Gene:
        RASL11B (Varview), LOC124900700 (Varview)
        Functional Consequence:
        upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1490658251 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          4:52862041 (GRCh38)
          4:53728208 (GRCh37)
          Canonical SPDI:
          NC_000004.12:52862040:C:G,NC_000004.12:52862040:C:T
          Gene:
          RASL11B (Varview), LOC124900700 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490583537 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:52861978 (GRCh38)
            4:53728145 (GRCh37)
            Canonical SPDI:
            NC_000004.12:52861977:G:A
            Gene:
            RASL11B (Varview), LOC124900700 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000066/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1489726257 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              ATG>- [Show Flanks]
              Chromosome:
              4:52866593 (GRCh38)
              4:53732760 (GRCh37)
              Canonical SPDI:
              NC_000004.12:52866592:ATG:
              Gene:
              RASL11B (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.000011/3 (TOPMED)
              -=0.000546/1 (Korea1K)
              HGVS:
              7.

              rs1489238393 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                4:52867229 (GRCh38)
                4:53733396 (GRCh37)
                Canonical SPDI:
                NC_000004.12:52867228:C:G,NC_000004.12:52867228:C:T
                Gene:
                RASL11B (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                T=0./0 (KOREAN)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489180221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:52865516 (GRCh38)
                  4:53731683 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:52865515:A:G
                  Gene:
                  RASL11B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1489147349 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    4:52865097 (GRCh38)
                    4:53731264 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:52865096:G:C
                    Gene:
                    RASL11B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488854697 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      4:52864527 (GRCh38)
                      4:53730694 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:52864526:T:G
                      Gene:
                      RASL11B (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1488792107 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:52866169 (GRCh38)
                        4:53732336 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:52866168:A:G
                        Gene:
                        RASL11B (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488586778 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:52863007 (GRCh38)
                          4:53729174 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:52863006:G:A
                          Gene:
                          RASL11B (Varview), LOC124900700 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488392459 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            4:52865855 (GRCh38)
                            4:53732023 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:52865855:GG:GGG
                            Gene:
                            RASL11B (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1487509863 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AGAA>- [Show Flanks]
                              Chromosome:
                              4:52864139 (GRCh38)
                              4:53730306 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:52864136:AAAGAA:AA
                              Gene:
                              RASL11B (Varview), LOC124900700 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1487207320 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:52860942 (GRCh38)
                                4:53727109 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:52860941:T:C
                                Gene:
                                RASL11B (Varview), LOC124900700 (Varview)
                                Functional Consequence:
                                500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1485900366 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  4:52862294 (GRCh38)
                                  4:53728461 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:52862293:C:A,NC_000004.12:52862293:C:G,NC_000004.12:52862293:C:T
                                  Gene:
                                  RASL11B (Varview), LOC124900700 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  T=0.000035/1 (TOMMO)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1485646466 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:52863691 (GRCh38)
                                    4:53729858 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:52863690:C:T
                                    Gene:
                                    RASL11B (Varview), LOC124900700 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485549167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      4:52866190 (GRCh38)
                                      4:53732357 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:52866189:G:C
                                      Gene:
                                      RASL11B (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485292518 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:52862107 (GRCh38)
                                        4:53728274 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:52862106:C:T
                                        Gene:
                                        RASL11B (Varview), LOC124900700 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_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)
                                        HGVS:
                                        20.

                                        rs1485184398 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          4:52866392 (GRCh38)
                                          4:53732559 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:52866391:C:G,NC_000004.12:52866391:C:T
                                          Gene:
                                          RASL11B (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          T=0.000007/1 (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...