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Items: 1 to 20 of 604

2.

rs1489437597 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:46078545 (GRCh38)
    19:46581803 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46078544:T:C
    Gene:
    IGFL2 (Varview), IGFL4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (TOPMED)
    HGVS:
    4.

    rs1488213912 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:46078643 (GRCh38)
      19:46581901 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46078642:C:T
      Gene:
      IGFL2 (Varview), IGFL4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.000035/1 (TOMMO)
      HGVS:
      5.

      rs1487410191 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:46100996 (GRCh38)
        19:46604254 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46100995:C:T
        Gene:
        IGFL2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant,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:
        6.

        rs1487204006 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          19:46078720 (GRCh38)
          19:46581978 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46078719:G:A,NC_000019.10:46078719:G:C
          Gene:
          IGFL2 (Varview), IGFL4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          HGVS:
          7.

          rs1486063263 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:46101128 (GRCh38)
            19:46604386 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46101127:C:T
            Gene:
            IGFL2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_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:
            9.

            rs1483718393 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              19:46079617 (GRCh38)
              19:46582875 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46079616:C:G,NC_000019.10:46079616:C:T
              Gene:
              IGFL2 (Varview), IGFL4 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000156/1 (1000Genomes)
              HGVS:
              NC_000019.10:g.46079617C>G, NC_000019.10:g.46079617C>T, NC_000019.9:g.46582875C>G, NC_000019.9:g.46582875C>T, XR_935743.3:n.1105C>G, XR_935743.3:n.1105C>T, XR_935743.2:n.1105C>G, XR_935743.2:n.1105C>T, XR_935743.1:n.1090C>G, XR_935743.1:n.1090C>T, XR_002958257.2:n.486C>G, XR_002958257.2:n.486C>T, XR_002958257.1:n.534C>G, XR_002958257.1:n.534C>T, XR_002958269.2:n.486C>G, XR_002958269.2:n.486C>T, XR_002958269.1:n.534C>G, XR_002958269.1:n.534C>T, XM_024451381.2:c.-885C>G, XM_024451381.2:c.-885C>T, XM_024451381.1:c.-885C>G, XM_024451381.1:c.-885C>T, XR_002958271.2:n.486C>G, XR_002958271.2:n.486C>T, XR_002958271.1:n.534C>G, XR_002958271.1:n.534C>T, XR_007066612.1:n.486C>G, XR_007066612.1:n.486C>T, XR_007066614.1:n.486C>G, XR_007066614.1:n.486C>T, XR_007066609.1:n.486C>G, XR_007066609.1:n.486C>T, XR_007066615.1:n.486C>G, XR_007066615.1:n.486C>T, XR_007066611.1:n.486C>G, XR_007066611.1:n.486C>T, XR_007066608.1:n.486C>G, XR_007066608.1:n.486C>T, XR_007066617.1:n.486C>G, XR_007066617.1:n.486C>T, XR_007066607.1:n.486C>G, XR_007066607.1:n.486C>T, XR_007066613.1:n.486C>G, XR_007066613.1:n.486C>T, XR_007066610.1:n.486C>G, XR_007066610.1:n.486C>T, XR_007066616.1:n.486C>G, XR_007066616.1:n.486C>T, XM_047438228.1:c.-1033C>G, XM_047438228.1:c.-1033C>T, XR_001753605.1:n.1105C>G, XR_001753605.1:n.1105C>T, XR_001753604.1:n.1105C>G, XR_001753604.1:n.1105C>T, XR_007066605.1:n.1105C>G, XR_007066605.1:n.1105C>T, XR_007066604.1:n.1105C>G, XR_007066604.1:n.1105C>T, XR_007066606.1:n.1105C>G, XR_007066606.1:n.1105C>T
              11.

              rs1480269772 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                19:46079989 (GRCh38)
                19:46583247 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46079988:C:G,NC_000019.10:46079988:C:T
                Gene:
                IGFL2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                G=0.000035/1 (TOMMO)
                HGVS:
                NC_000019.10:g.46079989C>G, NC_000019.10:g.46079989C>T, NC_000019.9:g.46583247C>G, NC_000019.9:g.46583247C>T, XR_935743.3:n.1477C>G, XR_935743.3:n.1477C>T, XR_935743.2:n.1477C>G, XR_935743.2:n.1477C>T, XR_935743.1:n.1462C>G, XR_935743.1:n.1462C>T, XR_002958257.2:n.858C>G, XR_002958257.2:n.858C>T, XR_002958257.1:n.906C>G, XR_002958257.1:n.906C>T, XR_002958269.2:n.858C>G, XR_002958269.2:n.858C>T, XR_002958269.1:n.906C>G, XR_002958269.1:n.906C>T, XM_024451381.2:c.-513C>G, XM_024451381.2:c.-513C>T, XM_024451381.1:c.-513C>G, XM_024451381.1:c.-513C>T, XR_002958271.2:n.858C>G, XR_002958271.2:n.858C>T, XR_002958271.1:n.906C>G, XR_002958271.1:n.906C>T, XR_007066612.1:n.858C>G, XR_007066612.1:n.858C>T, XR_007066614.1:n.858C>G, XR_007066614.1:n.858C>T, XR_007066609.1:n.858C>G, XR_007066609.1:n.858C>T, XR_007066615.1:n.858C>G, XR_007066615.1:n.858C>T, XR_007066611.1:n.858C>G, XR_007066611.1:n.858C>T, XR_007066608.1:n.858C>G, XR_007066608.1:n.858C>T, XR_007066617.1:n.858C>G, XR_007066617.1:n.858C>T, XR_007066607.1:n.858C>G, XR_007066607.1:n.858C>T, XR_007066613.1:n.858C>G, XR_007066613.1:n.858C>T, XR_007066610.1:n.858C>G, XR_007066610.1:n.858C>T, XR_007066616.1:n.858C>G, XR_007066616.1:n.858C>T, XM_047438228.1:c.-661C>G, XM_047438228.1:c.-661C>T, XR_001753605.1:n.1477C>G, XR_001753605.1:n.1477C>T, XR_001753604.1:n.1477C>G, XR_001753604.1:n.1477C>T, XR_007066605.1:n.1477C>G, XR_007066605.1:n.1477C>T, XR_007066604.1:n.1477C>G, XR_007066604.1:n.1477C>T, XR_007066606.1:n.1477C>G, XR_007066606.1:n.1477C>T
                13.

                rs1476464658 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  19:46160518 (GRCh38)
                  19:46663775 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46160517:A:T
                  Gene:
                  IGFL2 (Varview), LOC105372424 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  14.

                  rs1475964912 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    19:46079143 (GRCh38)
                    19:46582401 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46079142:C:A,NC_000019.10:46079142:C:G,NC_000019.10:46079142:C:T
                    Gene:
                    IGFL2 (Varview), IGFL4 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000019.10:g.46079143C>A, NC_000019.10:g.46079143C>G, NC_000019.10:g.46079143C>T, NC_000019.9:g.46582401C>A, NC_000019.9:g.46582401C>G, NC_000019.9:g.46582401C>T, XR_935743.3:n.631C>A, XR_935743.3:n.631C>G, XR_935743.3:n.631C>T, XR_935743.2:n.631C>A, XR_935743.2:n.631C>G, XR_935743.2:n.631C>T, XR_935743.1:n.616C>A, XR_935743.1:n.616C>G, XR_935743.1:n.616C>T, XR_002958257.2:n.12C>A, XR_002958257.2:n.12C>G, XR_002958257.2:n.12C>T, XR_002958257.1:n.60C>A, XR_002958257.1:n.60C>G, XR_002958257.1:n.60C>T, XR_002958269.2:n.12C>A, XR_002958269.2:n.12C>G, XR_002958269.2:n.12C>T, XR_002958269.1:n.60C>A, XR_002958269.1:n.60C>G, XR_002958269.1:n.60C>T, XM_024451381.2:c.-1359C>A, XM_024451381.2:c.-1359C>G, XM_024451381.2:c.-1359C>T, XM_024451381.1:c.-1359C>A, XM_024451381.1:c.-1359C>G, XM_024451381.1:c.-1359C>T, XR_002958271.2:n.12C>A, XR_002958271.2:n.12C>G, XR_002958271.2:n.12C>T, XR_002958271.1:n.60C>A, XR_002958271.1:n.60C>G, XR_002958271.1:n.60C>T, XR_007066612.1:n.12C>A, XR_007066612.1:n.12C>G, XR_007066612.1:n.12C>T, XR_007066614.1:n.12C>A, XR_007066614.1:n.12C>G, XR_007066614.1:n.12C>T, XR_007066609.1:n.12C>A, XR_007066609.1:n.12C>G, XR_007066609.1:n.12C>T, XR_007066615.1:n.12C>A, XR_007066615.1:n.12C>G, XR_007066615.1:n.12C>T, XR_007066611.1:n.12C>A, XR_007066611.1:n.12C>G, XR_007066611.1:n.12C>T, XR_007066608.1:n.12C>A, XR_007066608.1:n.12C>G, XR_007066608.1:n.12C>T, XR_007066617.1:n.12C>A, XR_007066617.1:n.12C>G, XR_007066617.1:n.12C>T, XR_007066607.1:n.12C>A, XR_007066607.1:n.12C>G, XR_007066607.1:n.12C>T, XR_007066613.1:n.12C>A, XR_007066613.1:n.12C>G, XR_007066613.1:n.12C>T, XR_007066610.1:n.12C>A, XR_007066610.1:n.12C>G, XR_007066610.1:n.12C>T, XR_007066616.1:n.12C>A, XR_007066616.1:n.12C>G, XR_007066616.1:n.12C>T, XM_047438228.1:c.-1507C>A, XM_047438228.1:c.-1507C>G, XM_047438228.1:c.-1507C>T, XR_001753605.1:n.631C>A, XR_001753605.1:n.631C>G, XR_001753605.1:n.631C>T, XR_001753604.1:n.631C>A, XR_001753604.1:n.631C>G, XR_001753604.1:n.631C>T, XR_007066605.1:n.631C>A, XR_007066605.1:n.631C>G, XR_007066605.1:n.631C>T, XR_007066604.1:n.631C>A, XR_007066604.1:n.631C>G, XR_007066604.1:n.631C>T, XR_007066606.1:n.631C>A, XR_007066606.1:n.631C>G, XR_007066606.1:n.631C>T
                    15.

                    rs1473991482 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:46078515 (GRCh38)
                      19:46581773 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46078514:A:T
                      Gene:
                      IGFL2 (Varview), IGFL4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      18.

                      rs1472993594 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:46160678 (GRCh38)
                        19:46663935 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46160677:C:T
                        Gene:
                        IGFL2 (Varview), LOC105372424 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        19.

                        rs1471147406 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:46079041 (GRCh38)
                          19:46582299 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46079040:A:G
                          Gene:
                          IGFL2 (Varview), IGFL4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.00017/2 (ALFA)
                          HGVS:
                          20.

                          rs1470611969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:46078829 (GRCh38)
                            19:46582087 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46078828:C:T
                            Gene:
                            IGFL2 (Varview), IGFL4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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:

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