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Items: 1 to 20 of 371

3.

rs1485641778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:46302752 (GRCh38)
    10:47673988 (GRCh37)
    Canonical SPDI:
    NC_000010.11:46302751:G:A
    Gene:
    ANTXRL (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000048/1 (ALFA)
    A=0.000007/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.46302752G>A, NW_003871068.1:g.573867G>A, NC_000010.10:g.47673988G>A, XM_006717684.4:c.827G>A, XM_006717684.3:c.827G>A, XM_006717684.2:c.827G>A, XM_006717684.1:c.827G>A, XM_011539437.3:c.374G>A, XM_011539437.2:c.374G>A, XM_011539437.1:c.374G>A, XM_011539438.3:c.374G>A, XM_011539438.2:c.374G>A, XM_011539438.1:c.374G>A, NM_001278688.3:c.827G>A, NM_001278688.2:c.827G>A, NM_001278688.1:c.827G>A, XM_011539430.3:c.827G>A, XM_011539430.2:c.827G>A, XM_011539430.1:c.827G>A, XM_011539433.3:c.494G>A, XM_011539433.2:c.494G>A, XM_011539433.1:c.494G>A, XM_011539431.3:c.620G>A, XM_011539431.2:c.620G>A, XM_011539431.1:c.620G>A, XM_011539434.3:c.494G>A, XM_011539434.2:c.494G>A, XM_011539434.1:c.494G>A, XM_017015819.2:c.374G>A, XM_017015819.1:c.374G>A, XR_945612.2:n.1093G>A, XR_945612.1:n.1093G>A, XR_945614.2:n.1093G>A, XR_945614.1:n.1093G>A, NM_001354208.2:c.-277G>A, NM_001354208.1:c.-277G>A, XM_017015818.2:c.551G>A, XM_017015818.1:c.551G>A, XM_047424708.1:c.374G>A, XM_047424705.1:c.542G>A, NR_003601.1:n.794G>A, XM_047424706.1:c.542G>A, XM_047424704.1:c.542G>A, XM_011539441.1:c.827G>A, XM_047424707.1:c.494G>A, XR_945615.1:n.1093G>A, XM_011539442.1:c.827G>A, XP_006717747.1:p.Gly276Asp, XP_011537739.1:p.Gly125Asp, XP_011537740.1:p.Gly125Asp, NP_001265617.1:p.Gly276Asp, XP_011537732.1:p.Gly276Asp, XP_011537735.1:p.Gly165Asp, XP_011537733.1:p.Gly207Asp, XP_011537736.1:p.Gly165Asp, XP_016871308.1:p.Gly125Asp, XP_016871307.1:p.Gly184Asp, XP_047280664.1:p.Gly125Asp, XP_047280661.1:p.Gly181Asp, XP_047280662.1:p.Gly181Asp, XP_047280660.1:p.Gly181Asp, XP_011537743.1:p.Gly276Asp, XP_047280663.1:p.Gly165Asp, XP_011537744.1:p.Gly276Asp
    4.

    rs1485617117 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:46308288 (GRCh38)
      10:47679524 (GRCh37)
      Canonical SPDI:
      NC_000010.11:46308287:A:G
      Gene:
      ANTXRL (Varview)
      Functional Consequence:
      3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000142/2 (ALFA)
      G=0.000042/11 (TOPMED)
      G=0.000057/8 (GnomAD)
      HGVS:
      5.

      rs1483977860 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:46307973 (GRCh38)
        10:47679209 (GRCh37)
        Canonical SPDI:
        NC_000010.11:46307972:C:T
        Gene:
        ANTXRL (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        6.

        rs1483179653 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:46308311 (GRCh38)
          10:47679547 (GRCh37)
          Canonical SPDI:
          NC_000010.11:46308310:G:A
          Gene:
          ANTXRL (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          7.

          rs1481732871 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:46306827 (GRCh38)
            10:47678063 (GRCh37)
            Canonical SPDI:
            NC_000010.11:46306826:A:G
            Gene:
            ANTXRL (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/2 (GnomAD_exomes)
            G=0.000021/3 (GnomAD)
            HGVS:
            NC_000010.11:g.46306827A>G, NW_003871068.1:g.577942A>G, NC_000010.10:g.47678063A>G, XM_006717684.4:c.920A>G, XM_006717684.3:c.920A>G, XM_006717684.2:c.920A>G, XM_006717684.1:c.920A>G, XM_011539437.3:c.467A>G, XM_011539437.2:c.467A>G, XM_011539437.1:c.467A>G, XM_011539438.3:c.467A>G, XM_011539438.2:c.467A>G, XM_011539438.1:c.467A>G, NM_001278688.3:c.920A>G, NM_001278688.2:c.920A>G, NM_001278688.1:c.920A>G, XM_011539430.3:c.920A>G, XM_011539430.2:c.920A>G, XM_011539430.1:c.920A>G, XM_011539433.3:c.587A>G, XM_011539433.2:c.587A>G, XM_011539433.1:c.587A>G, XM_011539431.3:c.713A>G, XM_011539431.2:c.713A>G, XM_011539431.1:c.713A>G, XM_011539434.3:c.587A>G, XM_011539434.2:c.587A>G, XM_011539434.1:c.587A>G, XM_017015819.2:c.467A>G, XM_017015819.1:c.467A>G, XR_945612.2:n.1186A>G, XR_945612.1:n.1186A>G, XR_945614.2:n.1186A>G, XR_945614.1:n.1186A>G, NM_001354208.2:c.-184A>G, NM_001354208.1:c.-184A>G, XM_017015818.2:c.644A>G, XM_017015818.1:c.644A>G, XM_047424708.1:c.467A>G, XM_047424705.1:c.635A>G, NR_003601.1:n.887A>G, XM_047424706.1:c.635A>G, XM_047424704.1:c.635A>G, XM_011539441.1:c.920A>G, XM_047424707.1:c.587A>G, XR_945615.1:n.1186A>G, XM_011539442.1:c.920A>G, XP_006717747.1:p.Asn307Ser, XP_011537739.1:p.Asn156Ser, XP_011537740.1:p.Asn156Ser, NP_001265617.1:p.Asn307Ser, XP_011537732.1:p.Asn307Ser, XP_011537735.1:p.Asn196Ser, XP_011537733.1:p.Asn238Ser, XP_011537736.1:p.Asn196Ser, XP_016871308.1:p.Asn156Ser, XP_016871307.1:p.Asn215Ser, XP_047280664.1:p.Asn156Ser, XP_047280661.1:p.Asn212Ser, XP_047280662.1:p.Asn212Ser, XP_047280660.1:p.Asn212Ser, XP_011537743.1:p.Asn307Ser, XP_047280663.1:p.Asn196Ser, XP_011537744.1:p.Asn307Ser
            10.

            rs1476871122 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:46307758 (GRCh38)
              10:47678994 (GRCh37)
              Canonical SPDI:
              NC_000010.11:46307757:C:G
              Gene:
              ANTXRL (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000021/3 (GnomAD)
              G=0.000045/12 (TOPMED)
              G=0.000546/1 (Korea1K)
              G=0.000602/10 (TOMMO)
              G=0.001369/4 (KOREAN)
              HGVS:
              11.

              rs1475205109 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                10:46308351 (GRCh38)
                10:47679587 (GRCh37)
                Canonical SPDI:
                NC_000010.11:46308350:G:C
                Gene:
                ANTXRL (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,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:
                12.

                rs1474599369 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:46308276 (GRCh38)
                  10:47679512 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:46308275:G:A
                  Gene:
                  ANTXRL (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.00006/16 (TOPMED)
                  A=0.000086/12 (GnomAD)
                  HGVS:
                  13.

                  rs1474142233 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:46287175 (GRCh38)
                    10:47658411 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:46287174:G:A
                    Gene:
                    ANTXRL (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    14.

                    rs1473565583 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:46308013 (GRCh38)
                      10:47679249 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:46308012:A:G
                      Gene:
                      ANTXRL (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      15.

                      rs1472603478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        10:46308368 (GRCh38)
                        10:47679604 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:46308367:G:A,NC_000010.11:46308367:G:T
                        Gene:
                        ANTXRL (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.00005/7 (GnomAD)
                        T=0.000142/2 (TOMMO)
                        A=0.000174/46 (TOPMED)
                        HGVS:
                        16.

                        rs1470511353 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:46287076 (GRCh38)
                          10:47658312 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:46287075:G:A
                          Gene:
                          ANTXRL (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          17.

                          rs1470307496 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:46287281 (GRCh38)
                            10:47658517 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:46287280:C:T
                            Gene:
                            ANTXRL (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000014/2 (GnomAD)
                            T=0.000019/5 (TOPMED)
                            HGVS:
                            18.

                            rs1468073684 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:46307815 (GRCh38)
                              10:47679051 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:46307814:T:C
                              Gene:
                              ANTXRL (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              19.

                              rs1464416655 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:46297303 (GRCh38)
                                10:47668539 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:46297302:A:G
                                Gene:
                                ANTXRL (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000010.11:g.46297303A>G, NW_003871068.1:g.568418A>G, NC_000010.10:g.47668539A>G, XM_006717684.4:c.560A>G, XM_006717684.3:c.560A>G, XM_006717684.2:c.560A>G, XM_006717684.1:c.560A>G, XM_011539437.3:c.107A>G, XM_011539437.2:c.107A>G, XM_011539437.1:c.107A>G, XM_011539438.3:c.107A>G, XM_011539438.2:c.107A>G, XM_011539438.1:c.107A>G, NM_001278688.3:c.560A>G, NM_001278688.2:c.560A>G, NM_001278688.1:c.560A>G, XM_011539430.3:c.560A>G, XM_011539430.2:c.560A>G, XM_011539430.1:c.560A>G, XM_011539433.3:c.227A>G, XM_011539433.2:c.227A>G, XM_011539433.1:c.227A>G, XM_011539431.3:c.353A>G, XM_011539431.2:c.353A>G, XM_011539431.1:c.353A>G, XM_011539434.3:c.227A>G, XM_011539434.2:c.227A>G, XM_011539434.1:c.227A>G, XM_017015819.2:c.107A>G, XM_017015819.1:c.107A>G, XR_945612.2:n.826A>G, XR_945612.1:n.826A>G, XR_945614.2:n.826A>G, XR_945614.1:n.826A>G, NM_001354208.2:c.-544A>G, NM_001354208.1:c.-544A>G, XM_017015818.2:c.284A>G, XM_017015818.1:c.284A>G, XM_047424708.1:c.107A>G, XM_047424705.1:c.275A>G, NR_003601.1:n.527A>G, XM_047424706.1:c.275A>G, XM_047424704.1:c.275A>G, XM_011539441.1:c.560A>G, XM_047424707.1:c.227A>G, XR_945615.1:n.826A>G, XM_011539442.1:c.560A>G, XP_006717747.1:p.His187Arg, XP_011537739.1:p.His36Arg, XP_011537740.1:p.His36Arg, NP_001265617.1:p.His187Arg, XP_011537732.1:p.His187Arg, XP_011537735.1:p.His76Arg, XP_011537733.1:p.His118Arg, XP_011537736.1:p.His76Arg, XP_016871308.1:p.His36Arg, XP_016871307.1:p.His95Arg, XP_047280664.1:p.His36Arg, XP_047280661.1:p.His92Arg, XP_047280662.1:p.His92Arg, XP_047280660.1:p.His92Arg, XP_011537743.1:p.His187Arg, XP_047280663.1:p.His76Arg, XP_011537744.1:p.His187Arg
                                20.

                                rs1464231722 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:46307781 (GRCh38)
                                  10:47679017 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:46307780:A:G
                                  Gene:
                                  ANTXRL (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000019/5 (TOPMED)
                                  HGVS:

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