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Items: 1 to 20 of 8370

1.

rs1491503185 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CAA [Show Flanks]
    Chromosome:
    10:88619209 (GRCh38)
    10:90378967 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88619209:AA:AACAA
    Gene:
    LIPJ (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AACAA=0./0 (ALFA)
    AAC=0.000004/1 (TOPMED)
    AAC=0.000009/1 (GnomAD)
    HGVS:

    2.

    rs1491474506 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      10:88619209 (GRCh38)
      10:90378966 (GRCh37)
      Canonical SPDI:
      NC_000010.11:88619208:TA:
      Gene:
      LIPJ (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00017/2 (ALFA)
      HGVS:

      3.

      rs1491393027 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        10:88615627 (GRCh38)
        10:90375384 (GRCh37)
        Canonical SPDI:
        NC_000010.11:88615626:CA:
        Gene:
        LIPJ (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:

        4.

        rs1491370930 has merged into rs749594455 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TA>-,TATA [Show Flanks]
          Chromosome:
          10:88599722 (GRCh38)
          10:90359479 (GRCh37)
          Canonical SPDI:
          NC_000010.11:88599710:ATATATATATATA:ATATATATATA,NC_000010.11:88599710:ATATATATATATA:ATATATATATATATA
          Gene:
          LIPJ (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATATATATATA=0.00006/1 (ALFA)
          -=0.00089/15 (TOMMO)
          AT=0.00164/3 (Korea1K)
          HGVS:

          5.

          rs1491287469 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            10:88602550 (GRCh38)
            10:90362307 (GRCh37)
            Canonical SPDI:
            NC_000010.11:88602549:CT:
            Gene:
            LIPJ (Varview)
            Functional Consequence:
            intron_variant
            HGVS:

            6.

            rs1491268607 has merged into rs11305444 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              10:88609907 (GRCh38)
              10:90369664 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88609898:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              LIPJ (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000010.11:g.88609907_88609918del, NC_000010.11:g.88609908_88609918del, NC_000010.11:g.88609910_88609918del, NC_000010.11:g.88609911_88609918del, NC_000010.11:g.88609913_88609918del, NC_000010.11:g.88609914_88609918del, NC_000010.11:g.88609915_88609918del, NC_000010.11:g.88609916_88609918del, NC_000010.11:g.88609917_88609918del, NC_000010.11:g.88609918del, NC_000010.11:g.88609918dup, NC_000010.11:g.88609917_88609918dup, NC_000010.11:g.88609916_88609918dup, NC_000010.11:g.88609913_88609918dup, NC_000010.10:g.90369664_90369675del, NC_000010.10:g.90369665_90369675del, NC_000010.10:g.90369667_90369675del, NC_000010.10:g.90369668_90369675del, NC_000010.10:g.90369670_90369675del, NC_000010.10:g.90369671_90369675del, NC_000010.10:g.90369672_90369675del, NC_000010.10:g.90369673_90369675del, NC_000010.10:g.90369674_90369675del, NC_000010.10:g.90369675del, NC_000010.10:g.90369675dup, NC_000010.10:g.90369674_90369675dup, NC_000010.10:g.90369673_90369675dup, NC_000010.10:g.90369670_90369675dup

              7.

              rs1491172696 has merged into rs1274768418 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAA>-,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                10:88615639 (GRCh38)
                10:90375396 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:88615627:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                LIPJ (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.88615639_88615651del, NC_000010.11:g.88615650_88615651del, NC_000010.11:g.88615651del, NC_000010.11:g.88615651dup, NC_000010.11:g.88615650_88615651dup, NC_000010.11:g.88615649_88615651dup, NC_000010.11:g.88615648_88615651dup, NC_000010.11:g.88615647_88615651dup, NC_000010.11:g.88615646_88615651dup, NC_000010.11:g.88615644_88615651dup, NC_000010.11:g.88615643_88615651dup, NC_000010.11:g.88615642_88615651dup, NC_000010.11:g.88615641_88615651dup, NC_000010.11:g.88615640_88615651dup, NC_000010.11:g.88615639_88615651dup, NC_000010.10:g.90375396_90375408del, NC_000010.10:g.90375407_90375408del, NC_000010.10:g.90375408del, NC_000010.10:g.90375408dup, NC_000010.10:g.90375407_90375408dup, NC_000010.10:g.90375406_90375408dup, NC_000010.10:g.90375405_90375408dup, NC_000010.10:g.90375404_90375408dup, NC_000010.10:g.90375403_90375408dup, NC_000010.10:g.90375401_90375408dup, NC_000010.10:g.90375400_90375408dup, NC_000010.10:g.90375399_90375408dup, NC_000010.10:g.90375398_90375408dup, NC_000010.10:g.90375397_90375408dup, NC_000010.10:g.90375396_90375408dup

                8.

                rs1491106724 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  10:88609898 (GRCh38)
                  10:90369655 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:88609897:CA:
                  Gene:
                  LIPJ (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1491099477 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    10:88602566 (GRCh38)
                    10:90362324 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:88602566:A:AA
                    Gene:
                    LIPJ (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000035/1 (TOMMO)
                    A=0.000037/5 (GnomAD)
                    HGVS:

                    10.

                    rs1491078535 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TA [Show Flanks]
                      Chromosome:
                      10:88598942 (GRCh38)
                      10:90358700 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88598942::TA
                      Gene:
                      LIPJ (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      TA=0.00007/8 (GnomAD)
                      HGVS:

                      11.

                      rs1491057868 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        10:88598945 (GRCh38)
                        10:90358702 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:88598941:TATAT:TAT
                        Gene:
                        LIPJ (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TAT=0.000071/1 (ALFA)
                        -=0.000009/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490851126 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:88609828 (GRCh38)
                          10:90369585 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:88609827:G:A
                          Gene:
                          LIPJ (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000084/1 (ALFA)
                          A=0.000036/5 (GnomAD)
                          HGVS:

                          13.

                          rs1490805498 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:88611043 (GRCh38)
                            10:90370800 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:88611042:G:A
                            Gene:
                            LIPJ (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:

                            14.

                            rs1490738421 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              10:88583056 (GRCh38)
                              10:90342813 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:88583055:G:T
                              Gene:
                              RNLS (Varview), LIPJ (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                              HGVS:

                              15.

                              rs1490551245 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                10:88604196 (GRCh38)
                                10:90363953 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:88604195:G:A,NC_000010.11:88604195:G:C
                                Gene:
                                LIPJ (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490544096 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  10:88619212 (GRCh38)
                                  10:90378969 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:88619211:A:T
                                  Gene:
                                  LIPJ (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000197/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490525565 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    10:88607277 (GRCh38)
                                    10:90367034 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:88607276:T:G
                                    Gene:
                                    LIPJ (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490520248 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      10:88596305 (GRCh38)
                                      10:90356062 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:88596304:A:T
                                      Gene:
                                      LIPJ (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000005/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1490512172 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        10:88583257 (GRCh38)
                                        10:90343014 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:88583256:A:C
                                        Gene:
                                        RNLS (Varview), LIPJ (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.88583257A>C, NC_000010.10:g.90343014A>C, XM_005269949.6:c.-67T>G, XM_005269949.5:c.-67T>G, XM_011539924.4:c.-67T>G, XM_011539924.3:c.-67T>G, XM_006717635.4:c.-982A>C, NM_018363.4:c.-67T>G, NM_018363.3:c.-67T>G, XM_005269948.4:c.-67T>G, XM_005269948.3:c.-67T>G, XM_005269948.2:c.-67T>G, XM_005269948.1:c.-67T>G, XM_011539927.4:c.-67T>G, XM_011539927.3:c.-67T>G, XM_017016380.3:c.-67T>G, XM_017016380.2:c.-67T>G, XM_017016382.3:c.-67T>G, XM_017016382.2:c.-67T>G, XM_017016382.1:c.-67T>G, XR_001747122.3:n.62T>G, XR_001747122.2:n.1224T>G, NM_001031709.3:c.-67T>G, NM_001031709.2:c.-67T>G, XM_017016381.3:c.-67T>G, XM_017016381.2:c.-67T>G, XM_005269947.3:c.-67T>G, XM_005269947.2:c.-67T>G, XM_017016384.3:c.-67T>G, XM_017016384.2:c.-67T>G, XM_017016384.1:c.-67T>G, NR_172141.1:n.351A>C, XM_047425435.1:c.-67T>G, XM_047425436.1:c.-67T>G

                                        20.

                                        rs1490309741 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          10:88582293 (GRCh38)
                                          10:90342050 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:88582292:T:
                                          Gene:
                                          RNLS (Varview), LIPJ (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.88582293del, NC_000010.10:g.90342050del, XM_005269949.6:c.133del, XM_005269949.5:c.133del, XM_005269949.4:c.133del, XM_005269949.3:c.133del, XM_005269949.2:c.133del, XM_005269949.1:c.133del, XM_011539924.4:c.133del, XM_011539924.3:c.133del, XM_011539924.2:c.133del, XM_011539924.1:c.133del, NM_018363.4:c.133del, NM_018363.3:c.133del, XM_011539927.4:c.133del, XM_011539927.3:c.133del, XM_011539927.2:c.133del, XM_011539927.1:c.133del, XM_017016380.3:c.133del, XM_017016380.2:c.133del, XM_017016380.1:c.133del, XR_001747122.3:n.261del, XR_001747122.2:n.1423del, XR_001747122.1:n.194del, NM_001031709.3:c.133del, NM_001031709.2:c.133del, XM_017016381.3:c.133del, XM_017016381.2:c.133del, XM_017016381.1:c.133del, XM_005269947.3:c.133del, XM_005269947.2:c.133del, XM_005269947.1:c.133del, XM_047425435.1:c.133del, XP_005270006.1:p.Thr45fs, XP_011538226.1:p.Thr45fs, NP_060833.1:p.Thr45fs, XP_011538229.1:p.Thr45fs, XP_016871869.1:p.Thr45fs, NP_001026879.2:p.Thr45fs, XP_016871870.1:p.Thr45fs, XP_005270004.1:p.Thr45fs, XP_047281391.1:p.Thr45fs

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