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Items: 1 to 20 of 1000

1.

rs1490940084 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:67521821 (GRCh38)
    15:67814159 (GRCh37)
    Canonical SPDI:
    NC_000015.10:67521820:C:T
    Gene:
    C15orf61 (Varview), IQCH-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490881704 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      15:67521610 (GRCh38)
      15:67813948 (GRCh37)
      Canonical SPDI:
      NC_000015.10:67521609:C:T
      Gene:
      C15orf61 (Varview), IQCH-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000111/1 (ALFA)
      T=0.000016/2 (GnomAD_exomes)
      HGVS:
      3.

      rs1490463594 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        15:67521396 (GRCh38)
        15:67813735 (GRCh37)
        Canonical SPDI:
        NC_000015.10:67521396:CC:CCC
        Gene:
        C15orf61 (Varview), IQCH-AS1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,frameshift_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CCC=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490447555 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:67522255 (GRCh38)
          15:67814593 (GRCh37)
          Canonical SPDI:
          NC_000015.10:67522254:A:G
          Gene:
          C15orf61 (Varview), IQCH-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490339681 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            15:67520037 (GRCh38)
            15:67812375 (GRCh37)
            Canonical SPDI:
            NC_000015.10:67520036:G:A,NC_000015.10:67520036:G:T
            Gene:
            C15orf61 (Varview), IQCH-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1490137620 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:67520992 (GRCh38)
              15:67813330 (GRCh37)
              Canonical SPDI:
              NC_000015.10:67520991:G:A
              Gene:
              C15orf61 (Varview), IQCH-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1489576171 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ATCC>- [Show Flanks]
                Chromosome:
                15:67521071 (GRCh38)
                15:67813409 (GRCh37)
                Canonical SPDI:
                NC_000015.10:67521068:CCATCC:CC
                Gene:
                C15orf61 (Varview), IQCH-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                HGVS:
                8.

                rs1489530102 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:67523464 (GRCh38)
                  15:67815802 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:67523463:G:A
                  Gene:
                  C15orf61 (Varview), IQCH-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000029/4 (GnomAD)
                  HGVS:
                  9.

                  rs1489445394 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    15:67527153 (GRCh38)
                    15:67819491 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:67527152:G:A
                    Gene:
                    C15orf61 (Varview)
                    Functional Consequence:
                    3_prime_UTR_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.

                    rs1489206320 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      15:67524400 (GRCh38)
                      15:67816738 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:67524399:T:G
                      Gene:
                      C15orf61 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488888390 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        15:67520067 (GRCh38)
                        15:67812405 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:67520066:G:C
                        Gene:
                        C15orf61 (Varview), IQCH-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488659104 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          15:67524844 (GRCh38)
                          15:67817183 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:67524844::G
                          Gene:
                          C15orf61 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487721367 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:67526435 (GRCh38)
                            15:67818773 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:67526434:T:C
                            Gene:
                            C15orf61 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000047/1 (ALFA)
                            C=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1487678548 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              15:67523731 (GRCh38)
                              15:67816069 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:67523730:T:C
                              Gene:
                              C15orf61 (Varview), IQCH-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000029/4 (GnomAD)
                              C=0.000038/10 (TOPMED)
                              HGVS:
                              15.

                              rs1487544498 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:67521029 (GRCh38)
                                15:67813367 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:67521028:T:C
                                Gene:
                                C15orf61 (Varview), IQCH-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000142/2 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487541579 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  15:67521759 (GRCh38)
                                  15:67814097 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:67521758:G:A,NC_000015.10:67521758:G:C
                                  Gene:
                                  C15orf61 (Varview), IQCH-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.00006/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1487510474 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    15:67522764 (GRCh38)
                                    15:67815102 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:67522763:T:C
                                    Gene:
                                    C15orf61 (Varview), IQCH-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487299961 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      15:67522037 (GRCh38)
                                      15:67814375 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:67522036:C:A,NC_000015.10:67522036:C:T
                                      Gene:
                                      C15orf61 (Varview), IQCH-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486245184 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        15:67525780 (GRCh38)
                                        15:67818118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:67525779:C:A
                                        Gene:
                                        C15orf61 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1486008320 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          15:67521680 (GRCh38)
                                          15:67814018 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:67521679:A:T
                                          Gene:
                                          C15orf61 (Varview), IQCH-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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