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Items: 1 to 20 of 2378

1.

rs1490935350 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    18:13419909 (GRCh38)
    18:13419908 (GRCh37)
    Canonical SPDI:
    NC_000018.10:13419908:A:G
    Gene:
    LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
    Functional Consequence:
    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490777765 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      18:13422352 (GRCh38)
      18:13422351 (GRCh37)
      Canonical SPDI:
      NC_000018.10:13422351:T:C,NC_000018.10:13422351:T:G
      Gene:
      LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490597306 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:13421628 (GRCh38)
        18:13421627 (GRCh37)
        Canonical SPDI:
        NC_000018.10:13421627:C:T
        Gene:
        LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490445569 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          18:13420420 (GRCh38)
          18:13420419 (GRCh37)
          Canonical SPDI:
          NC_000018.10:13420419:G:A
          Gene:
          LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000019/5 (TOPMED)
          HGVS:
          5.

          rs1489517827 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:13428059 (GRCh38)
            18:13428058 (GRCh37)
            Canonical SPDI:
            NC_000018.10:13428058:C:T
            Gene:
            LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489230299 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              18:13420959 (GRCh38)
              18:13420958 (GRCh37)
              Canonical SPDI:
              NC_000018.10:13420958:G:A
              Gene:
              LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              A=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1489136673 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                18:13421210 (GRCh38)
                18:13421209 (GRCh37)
                Canonical SPDI:
                NC_000018.10:13421209:T:C
                Gene:
                LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                Functional Consequence:
                intron_variant,splice_acceptor_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488503102 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:13424008 (GRCh38)
                  18:13424007 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:13424007:G:A
                  Gene:
                  LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  A=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1488366413 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    18:13424840 (GRCh38)
                    18:13424839 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:13424839:T:C
                    Gene:
                    LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                    Functional Consequence:
                    5_prime_UTR_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:
                    10.

                    rs1488187983 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      18:13424546 (GRCh38)
                      18:13424545 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:13424545:A:T
                      Gene:
                      LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000224/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1488158143 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        18:13421609 (GRCh38)
                        18:13421608 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:13421608:G:A
                        Gene:
                        LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1487557179 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          18:13429074 (GRCh38)
                          18:13429073 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:13429073:T:A,NC_000018.10:13429073:T:C
                          Gene:
                          LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486871641 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            18:13428548 (GRCh38)
                            18:13428547 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:13428547:C:T
                            Gene:
                            LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000011/3 (TOPMED)
                            T=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1486774718 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              18:13419173 (GRCh38)
                              18:13419172 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:13419172:T:A
                              Gene:
                              LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1486247177 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                18:13423804 (GRCh38)
                                18:13423803 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:13423803:A:G
                                Gene:
                                LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1486196641 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  18:13422789 (GRCh38)
                                  18:13422788 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:13422788:T:
                                  Gene:
                                  LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0./0 (GnomAD)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486184251 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    18:13422207 (GRCh38)
                                    18:13422206 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:13422206:T:A
                                    Gene:
                                    LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485960720 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      18:13426719 (GRCh38)
                                      18:13426718 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:13426718:A:G,NC_000018.10:13426718:A:T
                                      Gene:
                                      LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485928185 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        18:13420245 (GRCh38)
                                        18:13420244 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:13420244:A:G
                                        Gene:
                                        LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000142/2 (ALFA)
                                        G=0.000057/15 (TOPMED)
                                        G=0.000057/8 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485822339 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          18:13423204 (GRCh38)
                                          18:13423203 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:13423203:G:A
                                          Gene:
                                          LDLRAD4 (Varview), LDLRAD4-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000042/11 (TOPMED)
                                          HGVS:

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