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Items: 1 to 20 of 3461

1.

rs1490969651 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    20:6769552 (GRCh38)
    20:6750199 (GRCh37)
    Canonical SPDI:
    NC_000020.11:6769551:C:T
    Gene:
    BMP2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    2.

    rs1490708274 has merged into rs766616005 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TCG>-,TCGTCG [Show Flanks]
      Chromosome:
      20:6770238 (GRCh38)
      20:6750885 (GRCh37)
      Canonical SPDI:
      NC_000020.11:6770232:CGTCGTCG:CGTCG,NC_000020.11:6770232:CGTCGTCG:CGTCGTCGTCG
      Gene:
      BMP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_deletion,inframe_insertion
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CGTCGTCGTCG=0./0 (ALFA)
      CGT=0.000007/1 (GnomAD)
      CGT=0.000008/2 (TOPMED)
      -=0.000245/13 (ExAC)
      HGVS:
      3.

      rs1490526362 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        20:6777216 (GRCh38)
        20:6757863 (GRCh37)
        Canonical SPDI:
        NC_000020.11:6777215:A:G
        Gene:
        BMP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490510739 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          20:6778856 (GRCh38)
          20:6759503 (GRCh37)
          Canonical SPDI:
          NC_000020.11:6778855:T:G
          Gene:
          BMP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          HGVS:
          5.

          rs1490407881 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:6777565 (GRCh38)
            20:6758212 (GRCh37)
            Canonical SPDI:
            NC_000020.11:6777564:T:C
            Gene:
            BMP2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1490185640 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:6770495 (GRCh38)
              20:6751142 (GRCh37)
              Canonical SPDI:
              NC_000020.11:6770494:G:A
              Gene:
              BMP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489703314 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:6768657 (GRCh38)
                20:6749304 (GRCh37)
                Canonical SPDI:
                NC_000020.11:6768656:A:G
                Gene:
                BMP2 (Varview), LOC105372517 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489173821 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  20:6771236 (GRCh38)
                  20:6751883 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:6771235:A:T
                  Gene:
                  BMP2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  T=0.001369/4 (KOREAN)
                  HGVS:
                  9.

                  rs1489157061 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    T>- [Show Flanks]
                    Chromosome:
                    20:6776504 (GRCh38)
                    20:6757151 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:6776503:T:
                    Gene:
                    BMP2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488830839 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      20:6775955 (GRCh38)
                      20:6756602 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:6775954:A:T
                      Gene:
                      BMP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000029/4 (GnomAD)
                      T=0.000042/11 (TOPMED)
                      HGVS:
                      11.

                      rs1488669251 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:6770429 (GRCh38)
                        20:6751076 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:6770428:G:A
                        Gene:
                        BMP2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1488582287 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AGTCCCGGAGCCGGCCCCG>- [Show Flanks]
                          Chromosome:
                          20:6768411 (GRCh38)
                          20:6749058 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:6768405:CCCCGAGTCCCGGAGCCGGCCCCG:CCCCG
                          Gene:
                          BMP2 (Varview), LOC105372517 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CCCCG=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488540807 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->GAAT
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1488130200 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              20:6767592 (GRCh38)
                              20:6748239 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:6767591:G:T
                              Gene:
                              BMP2 (Varview), LOC105372517 (Varview)
                              Functional Consequence:
                              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)
                              T=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1488078543 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:6768158 (GRCh38)
                                20:6748805 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:6768157:C:T
                                Gene:
                                BMP2 (Varview), LOC105372517 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488014394 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  20:6774295 (GRCh38)
                                  20:6754942 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:6774294:G:T
                                  Gene:
                                  BMP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000162/3 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1487891722 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    20:6767662 (GRCh38)
                                    20:6748309 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:6767661:A:C,NC_000020.11:6767661:A:G
                                    Gene:
                                    BMP2 (Varview), LOC105372517 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1487750314 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      20:6768005 (GRCh38)
                                      20:6748652 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:6768004:A:G,NC_000020.11:6768004:A:T
                                      Gene:
                                      BMP2 (Varview), LOC105372517 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000156/1 (1000Genomes)
                                      G=0.002513/42 (TOMMO)
                                      G=0.002766/8 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1487616645 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        20:6767544 (GRCh38)
                                        20:6748191 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:6767543:C:A
                                        Gene:
                                        BMP2 (Varview), LOC105372517 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000015/2 (GnomAD)
                                        A=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1487516804 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GGT>- [Show Flanks]
                                          Chromosome:
                                          20:6779970 (GRCh38)
                                          20:6760617 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:6779967:GTGGT:GT
                                          Gene:
                                          BMP2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GT=0./0 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          -=0.00003/8 (TOPMED)
                                          -=0.000248/4 (TOMMO)
                                          -=0.002729/5 (Korea1K)
                                          HGVS:

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