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Items: 1 to 20 of 1124

1.

rs1491225232 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    16:50671141 (GRCh38)
    16:50705052 (GRCh37)
    Canonical SPDI:
    NC_000016.10:50671140:AT:
    Gene:
    SNX20 (Varview), LOC101927272 (Varview)
    Functional Consequence:
    downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491204344 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTTT [Show Flanks]
      Chromosome:
      16:50671141 (GRCh38)
      16:50705053 (GRCh37)
      Canonical SPDI:
      NC_000016.10:50671141:TTT:TTTTTTT
      Gene:
      SNX20 (Varview), LOC101927272 (Varview)
      Functional Consequence:
      downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTTTTTT=0.0009/4 (ALFA)
      TTTT=0.0004/2 (Estonian)
      HGVS:
      3.

      rs1490934390 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:50667347 (GRCh38)
        16:50701258 (GRCh37)
        Canonical SPDI:
        NC_000016.10:50667346:C:T
        Gene:
        SNX20 (Varview), LOC101927272 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,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)
        HGVS:
        4.

        rs1490450853 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:50668315 (GRCh38)
          16:50702226 (GRCh37)
          Canonical SPDI:
          NC_000016.10:50668314:T:C
          Gene:
          SNX20 (Varview), LOC101927272 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489960105 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:50669646 (GRCh38)
            16:50703557 (GRCh37)
            Canonical SPDI:
            NC_000016.10:50669645:C:T
            Gene:
            SNX20 (Varview), LOC101927272 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489905260 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:50667174 (GRCh38)
              16:50701085 (GRCh37)
              Canonical SPDI:
              NC_000016.10:50667173:A:G
              Gene:
              SNX20 (Varview), LOC101927272 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489168998 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                16:50671994 (GRCh38)
                16:50705905 (GRCh37)
                Canonical SPDI:
                NC_000016.10:50671993:T:G
                Gene:
                SNX20 (Varview), LOC101927272 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488753058 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  16:50668130 (GRCh38)
                  16:50702041 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:50668129:A:C
                  Gene:
                  SNX20 (Varview), LOC101927272 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1488194739 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:50668619 (GRCh38)
                    16:50702530 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:50668618:G:A
                    Gene:
                    SNX20 (Varview), LOC101927272 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488158859 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      16:50671752 (GRCh38)
                      16:50705663 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:50671751:A:
                      Gene:
                      SNX20 (Varview), LOC101927272 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.000285/4 (ALFA)
                      -=0.000128/18 (GnomAD)
                      -=0.000128/34 (TOPMED)
                      HGVS:
                      11.

                      rs1487768459 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:50671825 (GRCh38)
                        16:50705736 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:50671824:C:T
                        Gene:
                        SNX20 (Varview), LOC101927272 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1486258833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          16:50667035 (GRCh38)
                          16:50700946 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:50667034:A:C
                          Gene:
                          SNX20 (Varview), LOC101927272 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1485877432 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            16:50671244 (GRCh38)
                            16:50705155 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:50671243:G:C
                            Gene:
                            SNX20 (Varview), LOC101927272 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,non_coding_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:
                            14.

                            rs1485625335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              16:50669301 (GRCh38)
                              16:50703212 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:50669300:T:A
                              Gene:
                              SNX20 (Varview), LOC101927272 (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=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1484211339 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                16:50669319 (GRCh38)
                                16:50703230 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:50669318:A:C
                                Gene:
                                SNX20 (Varview), LOC101927272 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1484142470 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  16:50668165 (GRCh38)
                                  16:50702076 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:50668164:A:C
                                  Gene:
                                  SNX20 (Varview), LOC101927272 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483665651 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:50671373 (GRCh38)
                                    16:50705284 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:50671372:A:G
                                    Gene:
                                    SNX20 (Varview), LOC101927272 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481988352 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      16:50671077 (GRCh38)
                                      16:50704988 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:50671076:C:A,NC_000016.10:50671076:C:T
                                      Gene:
                                      SNX20 (Varview), LOC101927272 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1481590246 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:50670737 (GRCh38)
                                        16:50704648 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:50670736:G:A
                                        Gene:
                                        SNX20 (Varview), LOC101927272 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1479729718 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:50669045 (GRCh38)
                                          16:50702956 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:50669044:A:G
                                          Gene:
                                          SNX20 (Varview), LOC101927272 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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