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Links from Gene

Items: 1 to 20 of 6589

1.

rs1491467701 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TAT [Show Flanks]
    Chromosome:
    15:82997035 (GRCh38)
    15:83665788 (GRCh37)
    Canonical SPDI:
    NC_000015.10:82997035:AT:ATTAT
    Gene:
    C15orf40 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    ATTAT=0.00017/2 (ALFA)
    HGVS:
    2.

    rs1491187785 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AC>- [Show Flanks]
      Chromosome:
      15:82998270 (GRCh38)
      15:83667022 (GRCh37)
      Canonical SPDI:
      NC_000015.10:82998269:AC:
      Gene:
      C15orf40 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491070608 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TAT [Show Flanks]
        Chromosome:
        15:82997038 (GRCh38)
        15:83665791 (GRCh37)
        Canonical SPDI:
        NC_000015.10:82997038:AT:ATTAT
        Gene:
        C15orf40 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        ATTAT=0.00017/2 (ALFA)
        HGVS:
        4.

        rs1490914174 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:82997731 (GRCh38)
          15:83666483 (GRCh37)
          Canonical SPDI:
          NC_000015.10:82997730:C:T
          Gene:
          C15orf40 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1490872528 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:83009719 (GRCh38)
            15:83678471 (GRCh37)
            Canonical SPDI:
            NC_000015.10:83009718:G:A
            Gene:
            C15orf40 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490852502 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:83007465 (GRCh38)
              15:83676217 (GRCh37)
              Canonical SPDI:
              NC_000015.10:83007464:A:G
              Gene:
              C15orf40 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000026/7 (TOPMED)
              G=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1490824736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                15:83010659 (GRCh38)
                15:83679411 (GRCh37)
                Canonical SPDI:
                NC_000015.10:83010658:G:T
                Gene:
                C15orf40 (Varview), LOC124903542 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1490818609 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  15:82992876 (GRCh38)
                  15:83661628 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:82992875:C:G,NC_000015.10:82992875:C:T
                  Gene:
                  C15orf40 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000023/6 (TOPMED)
                  HGVS:
                  9.

                  rs1490689221 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:82989310 (GRCh38)
                    15:83658062 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:82989309:A:G
                    Gene:
                    RAMAC (Varview), C15orf40 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000342/1 (KOREAN)
                    HGVS:
                    10.

                    rs1490655817 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      15:82991753 (GRCh38)
                      15:83660505 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:82991752:A:G
                      Gene:
                      C15orf40 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490625312 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        15:82994298 (GRCh38)
                        15:83663050 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:82994297:T:A,NC_000015.10:82994297:T:G
                        Gene:
                        C15orf40 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.00008/1 (ALFA)
                        HGVS:
                        12.

                        rs1490451522 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          15:83002580 (GRCh38)
                          15:83671332 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:83002579:G:C
                          Gene:
                          C15orf40 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490334082 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            15:82989337 (GRCh38)
                            15:83658089 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:82989336:A:
                            Gene:
                            RAMAC (Varview), C15orf40 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.000071/1 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490286867 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:83002099 (GRCh38)
                              15:83670851 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:83002098:G:A
                              Gene:
                              C15orf40 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1490078704 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                15:83011503 (GRCh38)
                                15:83680255 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:83011502:C:A,NC_000015.10:83011502:C:T
                                Gene:
                                C15orf40 (Varview), LOC124903542 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_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:
                                NC_000015.10:g.83011503C>A, NC_000015.10:g.83011503C>T, NC_000015.9:g.83680255C>A, NC_000015.9:g.83680255C>T, NM_144597.3:c.105G>T, NM_144597.3:c.105G>A, NM_144597.2:c.105G>T, NM_144597.2:c.105G>A, XM_011521212.3:c.105G>T, XM_011521212.3:c.105G>A, XM_011521212.2:c.105G>T, XM_011521212.2:c.105G>A, XM_011521212.1:c.105G>T, XM_011521212.1:c.105G>A, XM_006720385.3:c.105G>T, XM_006720385.3:c.105G>A, XM_006720385.2:c.105G>T, XM_006720385.2:c.105G>A, XM_006720385.1:c.105G>T, XM_006720385.1:c.105G>A, XM_011521213.3:c.105G>T, XM_011521213.3:c.105G>A, XM_011521213.2:c.105G>T, XM_011521213.2:c.105G>A, XM_011521213.1:c.105G>T, XM_011521213.1:c.105G>A, XM_011521214.3:c.105G>T, XM_011521214.3:c.105G>A, XM_011521214.2:c.105G>T, XM_011521214.2:c.105G>A, XM_011521214.1:c.105G>T, XM_011521214.1:c.105G>A, NR_027649.2:n.137G>T, NR_027649.2:n.137G>A, NR_027649.1:n.139G>T, NR_027649.1:n.139G>A, NM_001160113.2:c.105G>T, NM_001160113.2:c.105G>A, NM_001160113.1:c.105G>T, NM_001160113.1:c.105G>A, NR_027650.2:n.137G>T, NR_027650.2:n.137G>A, NR_027650.1:n.139G>T, NR_027650.1:n.139G>A, NM_001160114.2:c.105G>T, NM_001160114.2:c.105G>A, NM_001160114.1:c.105G>T, NM_001160114.1:c.105G>A, NM_001160115.2:c.105G>T, NM_001160115.2:c.105G>A, NM_001160115.1:c.105G>T, NM_001160115.1:c.105G>A, NM_001160116.2:c.105G>T, NM_001160116.2:c.105G>A, NM_001160116.1:c.105G>T, NM_001160116.1:c.105G>A, XM_047432137.1:c.105G>T, XM_047432137.1:c.105G>A, XM_047432138.1:c.105G>T, XM_047432138.1:c.105G>A
                                16.

                                rs1490078528 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:82997983 (GRCh38)
                                  15:83666735 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:82997982:C:T
                                  Gene:
                                  C15orf40 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.005142/61 (ALFA)
                                  T=0.000142/2 (TOMMO)
                                  T=0.003695/477 (GnomAD)
                                  C=0.4375/7 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1490054049 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    15:83009209 (GRCh38)
                                    15:83677962 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:83009209:A:AA
                                    Gene:
                                    C15orf40 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489931236 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      15:83007902 (GRCh38)
                                      15:83676654 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:83007901:T:G
                                      Gene:
                                      C15orf40 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489915943 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        15:82997295 (GRCh38)
                                        15:83666047 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:82997294:G:T
                                        Gene:
                                        C15orf40 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489771685 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:83012424 (GRCh38)
                                          15:83681176 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:83012423:G:A
                                          Gene:
                                          C15orf40 (Varview), LOC124903542 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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