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Items: 1 to 20 of 5841

1.

rs1491188844 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    19:32043490 (GRCh38)
    19:32534396 (GRCh37)
    Canonical SPDI:
    NC_000019.10:32043488:TCT:T
    Gene:
    LINC01533 (Varview), LINC01837 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.05058/814 (ALFA)
    -=0.025/1 (GENOME_DK)
    -=0.04021/60 (Korea1K)
    -=0.04296/593 (TOMMO)
    -=0.05442/32 (NorthernSweden)
    -=0.08118/301 (TWINSUK)
    -=0.08537/329 (ALSPAC)
    -=0.09337/6773 (GnomAD)
    HGVS:
    2.

    rs1490955717 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:32038931 (GRCh38)
      19:32529837 (GRCh37)
      Canonical SPDI:
      NC_000019.10:32038930:C:T
      Gene:
      LINC01533 (Varview), LINC01837 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490920255 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        C>- [Show Flanks]
        Chromosome:
        19:32047220 (GRCh38)
        19:32538126 (GRCh37)
        Canonical SPDI:
        NC_000019.10:32047219:CCCC:CCC
        Gene:
        LINC01533 (Varview), LINC01837 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        CCC=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490895239 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          19:32046971 (GRCh38)
          19:32537877 (GRCh37)
          Canonical SPDI:
          NC_000019.10:32046970:A:C
          Gene:
          LINC01533 (Varview), LINC01837 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490881523 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            19:32024393 (GRCh38)
            19:32515299 (GRCh37)
            Canonical SPDI:
            NC_000019.10:32024392:C:A,NC_000019.10:32024392:C:T
            Gene:
            LINC01533 (Varview), LINC01837 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            T=0.000071/2 (TOMMO)
            HGVS:
            6.

            rs1490829852 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              19:32032179 (GRCh38)
              19:32523085 (GRCh37)
              Canonical SPDI:
              NC_000019.10:32032178:T:A
              Gene:
              LINC01533 (Varview), LINC01837 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490730934 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                19:32039798 (GRCh38)
                19:32530704 (GRCh37)
                Canonical SPDI:
                NC_000019.10:32039797:G:T
                Gene:
                LINC01533 (Varview), LINC01837 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000038/10 (TOPMED)
                HGVS:
                8.

                rs1490609983 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  19:32029324 (GRCh38)
                  19:32520230 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:32029323:A:C
                  Gene:
                  LINC01533 (Varview), LINC01837 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490591929 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:32031531 (GRCh38)
                    19:32522437 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:32031530:A:G
                    Gene:
                    LINC01533 (Varview), LINC01837 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (KOREAN)
                    G=0.000004/1 (TOPMED)
                    G=0.000389/7 (TOMMO)
                    HGVS:
                    10.

                    rs1490538112 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAAAAAAACAA>- [Show Flanks]
                      Chromosome:
                      19:32032372 (GRCh38)
                      19:32523278 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:32032369:AAAAAAAAAAAAAAAAAAAACAA:AA
                      Gene:
                      LINC01533 (Varview), LINC01837 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      -=0.000008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490390105 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:32024846 (GRCh38)
                        19:32515752 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:32024845:T:C
                        Gene:
                        LINC01533 (Varview), LINC01837 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000142/2 (ALFA)
                        C=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1490338398 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:32032810 (GRCh38)
                          19:32523716 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:32032809:C:T
                          Gene:
                          LINC01533 (Varview), LINC01837 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490258293 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            19:32027712 (GRCh38)
                            19:32518618 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:32027711:G:A,NC_000019.10:32027711:G:C
                            Gene:
                            LINC01533 (Varview), LINC01837 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            C=0.008197/15 (Korea1K)
                            HGVS:
                            14.

                            rs1490239688 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:32040266 (GRCh38)
                              19:32531172 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:32040265:C:T
                              Gene:
                              LINC01533 (Varview), LINC01837 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490102402 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:32031969 (GRCh38)
                                19:32522875 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:32031968:C:T
                                Gene:
                                LINC01533 (Varview), LINC01837 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_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:
                                16.

                                rs1489949911 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  19:32026028 (GRCh38)
                                  19:32516934 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:32026027:T:C
                                  Gene:
                                  LINC01533 (Varview), LINC01837 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_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:
                                  17.

                                  rs1489304565 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TAGT>- [Show Flanks]
                                    Chromosome:
                                    19:32036109 (GRCh38)
                                    19:32527015 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:32036105:AGTTAGT:AGT
                                    Gene:
                                    LINC01533 (Varview), LINC01837 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AGT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489264910 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      19:32028295 (GRCh38)
                                      19:32519201 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:32028294:T:A
                                      Gene:
                                      LINC01533 (Varview), LINC01837 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489194089 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GAC>- [Show Flanks]
                                        Chromosome:
                                        19:32045587 (GRCh38)
                                        19:32536493 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:32045586:GAC:
                                        Gene:
                                        LINC01533 (Varview), LINC01837 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489055821 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:32029378 (GRCh38)
                                          19:32520284 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:32029377:T:C
                                          Gene:
                                          LINC01533 (Varview), LINC01837 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000019/5 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:

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