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Items: 1 to 20 of 1066

1.

rs1490950092 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:4785966 (GRCh38)
    17:4689261 (GRCh37)
    Canonical SPDI:
    NC_000017.11:4785965:A:G
    Gene:
    VMO1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1490884930 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:4785327 (GRCh38)
      17:4688622 (GRCh37)
      Canonical SPDI:
      NC_000017.11:4785326:C:T
      Gene:
      VMO1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490502071 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:4788274 (GRCh38)
        17:4691569 (GRCh37)
        Canonical SPDI:
        NC_000017.11:4788273:C:T
        Gene:
        VMO1 (Varview), GLTPD2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1490172531 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAG>- [Show Flanks]
          Chromosome:
          17:4787361 (GRCh38)
          17:4690656 (GRCh37)
          Canonical SPDI:
          NC_000017.11:4787357:AAGAAG:AAG
          Gene:
          VMO1 (Varview), GLTPD2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAGAAG=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490141658 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            17:4786453 (GRCh38)
            17:4689748 (GRCh37)
            Canonical SPDI:
            NC_000017.11:4786452:C:G
            Gene:
            VMO1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1488704583 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>- [Show Flanks]
              Chromosome:
              17:4787526 (GRCh38)
              17:4690821 (GRCh37)
              Canonical SPDI:
              NC_000017.11:4787523:TTTTTT:TT
              Gene:
              VMO1 (Varview), GLTPD2 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              HGVS:
              7.

              rs1488059421 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:4788078 (GRCh38)
                17:4691373 (GRCh37)
                Canonical SPDI:
                NC_000017.11:4788077:G:A
                Gene:
                VMO1 (Varview), GLTPD2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000142/2 (ALFA)
                A=0.000036/5 (GnomAD)
                A=0.000042/11 (TOPMED)
                HGVS:
                8.

                rs1487642553 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:4786510 (GRCh38)
                  17:4689805 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:4786509:A:G
                  Gene:
                  VMO1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486210026 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:4785167 (GRCh38)
                    17:4688462 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:4785166:C:T
                    Gene:
                    VMO1 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1486124446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:4785011 (GRCh38)
                      17:4688306 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:4785010:T:C
                      Gene:
                      VMO1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1486005648 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        17:4787530 (GRCh38)
                        17:4690825 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:4787529:G:T
                        Gene:
                        VMO1 (Varview), GLTPD2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        G=0.5/13 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1484969054 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAATAAATAAAT>-,AAATAAAT [Show Flanks]
                          Chromosome:
                          17:4785250 (GRCh38)
                          17:4688545 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:4785246:AATAAATAAATAAAT:AAT,NC_000017.11:4785246:AATAAATAAATAAAT:AATAAATAAAT
                          Gene:
                          VMO1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AATAAATAAAT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000017/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484872437 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:4787710 (GRCh38)
                            17:4691005 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:4787709:T:C
                            Gene:
                            VMO1 (Varview), GLTPD2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1484169358 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:4785654 (GRCh38)
                              17:4688949 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:4785653:C:T
                              Gene:
                              VMO1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1483668760 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:4788043 (GRCh38)
                                17:4691338 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:4788042:T:C
                                Gene:
                                VMO1 (Varview), GLTPD2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1483178423 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  17:4785388 (GRCh38)
                                  17:4688683 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:4785387:C:A,NC_000017.11:4785387:C:T
                                  Gene:
                                  VMO1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481483645 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:4786176 (GRCh38)
                                    17:4689471 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:4786175:G:A
                                    Gene:
                                    VMO1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1480033304 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      17:4787447 (GRCh38)
                                      17:4690742 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:4787446:G:C
                                      Gene:
                                      VMO1 (Varview), GLTPD2 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479707958 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:4787866 (GRCh38)
                                        17:4691161 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:4787865:T:C
                                        Gene:
                                        VMO1 (Varview), GLTPD2 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479390776 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          17:4786185 (GRCh38)
                                          17:4689480 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:4786184:T:A
                                          Gene:
                                          VMO1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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