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Items: 1 to 20 of 3025

1.

rs1491053492 has merged into rs138016226 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:165705549 (GRCh38)
    1:165674786 (GRCh37)
    Canonical SPDI:
    NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:165705539:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LOC440700 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.165705549_165705563del, NC_000001.11:g.165705551_165705563del, NC_000001.11:g.165705552_165705563del, NC_000001.11:g.165705553_165705563del, NC_000001.11:g.165705556_165705563del, NC_000001.11:g.165705558_165705563del, NC_000001.11:g.165705561_165705563del, NC_000001.11:g.165705562_165705563del, NC_000001.11:g.165705563del, NC_000001.11:g.165705563dup, NC_000001.11:g.165705562_165705563dup, NC_000001.11:g.165705561_165705563dup, NC_000001.11:g.165705560_165705563dup, NC_000001.11:g.165705559_165705563dup, NC_000001.11:g.165705558_165705563dup, NC_000001.11:g.165705552_165705563dup, NC_000001.11:g.165705548_165705563dup, NC_000001.10:g.165674786_165674800del, NC_000001.10:g.165674788_165674800del, NC_000001.10:g.165674789_165674800del, NC_000001.10:g.165674790_165674800del, NC_000001.10:g.165674793_165674800del, NC_000001.10:g.165674795_165674800del, NC_000001.10:g.165674798_165674800del, NC_000001.10:g.165674799_165674800del, NC_000001.10:g.165674800del, NC_000001.10:g.165674800dup, NC_000001.10:g.165674799_165674800dup, NC_000001.10:g.165674798_165674800dup, NC_000001.10:g.165674797_165674800dup, NC_000001.10:g.165674796_165674800dup, NC_000001.10:g.165674795_165674800dup, NC_000001.10:g.165674789_165674800dup, NC_000001.10:g.165674785_165674800dup
    2.

    rs1490924825 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      1:165705539 (GRCh38)
      1:165674776 (GRCh37)
      Canonical SPDI:
      NC_000001.11:165705538:T:A,NC_000001.11:165705538:T:C
      Gene:
      LOC440700 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.00017/2 (ALFA)
      A=0.05802/170 (KOREAN)
      HGVS:
      3.

      rs1490649605 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        1:165704460 (GRCh38)
        1:165673697 (GRCh37)
        Canonical SPDI:
        NC_000001.11:165704459:C:A,NC_000001.11:165704459:C:T
        Gene:
        LOC440700 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490460322 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:165706101 (GRCh38)
          1:165675338 (GRCh37)
          Canonical SPDI:
          NC_000001.11:165706100:A:G
          Gene:
          LOC440700 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490361740 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:165699413 (GRCh38)
            1:165668650 (GRCh37)
            Canonical SPDI:
            NC_000001.11:165699412:T:G
            Gene:
            ALDH9A1 (Varview), LOC440700 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490031656 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:165698592 (GRCh38)
              1:165667829 (GRCh37)
              Canonical SPDI:
              NC_000001.11:165698591:C:T
              Gene:
              ALDH9A1 (Varview), LOC440700 (Varview)
              Functional Consequence:
              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:
              7.

              rs1489885937 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:165701351 (GRCh38)
                1:165670588 (GRCh37)
                Canonical SPDI:
                NC_000001.11:165701350:T:C
                Gene:
                LOC440700 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                C=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1489736608 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:165708075 (GRCh38)
                  1:165677312 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:165708074:C:A
                  Gene:
                  LOC440700 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000045/12 (TOPMED)
                  A=0.000086/12 (GnomAD)
                  HGVS:
                  9.

                  rs1489255336 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    1:165707848 (GRCh38)
                    1:165677085 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:165707847:C:G,NC_000001.11:165707847:C:T
                    Gene:
                    LOC440700 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by cluster
                    HGVS:
                    10.

                    rs1489020988 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:165706684 (GRCh38)
                      1:165675921 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:165706683:C:T
                      Gene:
                      LOC440700 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488966733 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:165700538 (GRCh38)
                        1:165669775 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:165700537:T:C
                        Gene:
                        ALDH9A1 (Varview), LOC440700 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488909175 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:165709409 (GRCh38)
                          1:165678646 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:165709408:T:C
                          Gene:
                          LOC440700 (Varview)
                          Functional Consequence:
                          non_coding_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:
                          13.

                          rs1488884744 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            1:165708896 (GRCh38)
                            1:165678133 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:165708895:A:C
                            Gene:
                            LOC440700 (Varview)
                            Functional Consequence:
                            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:
                            14.

                            rs1488606944 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:165697848 (GRCh38)
                              1:165667085 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:165697847:C:A
                              Gene:
                              ALDH9A1 (Varview), LOC440700 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488173649 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:165708814 (GRCh38)
                                1:165678051 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:165708813:T:G
                                Gene:
                                LOC440700 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488106089 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:165703632 (GRCh38)
                                  1:165672869 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:165703631:G:C
                                  Gene:
                                  LOC440700 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487699584 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:165700687 (GRCh38)
                                    1:165669924 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:165700686:A:G
                                    Gene:
                                    LOC440700 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487680477 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:165704264 (GRCh38)
                                      1:165673501 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:165704263:C:T
                                      Gene:
                                      LOC440700 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487253637 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GGTGGAGTTTG>- [Show Flanks]
                                        Chromosome:
                                        1:165705464 (GRCh38)
                                        1:165674701 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:165705463:GGTGGAGTTTG:
                                        Gene:
                                        LOC440700 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000015/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487194144 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:165708374 (GRCh38)
                                          1:165677611 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:165708373:G:A
                                          Gene:
                                          LOC440700 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000071/2 (TOMMO)
                                          HGVS:

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