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Items: 1 to 20 of 1027

1.

rs1491407603 has merged into rs71570470 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTT>-,T,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:248695240 (GRCh38)
    1:248858541 (GRCh37)
    Canonical SPDI:
    NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    OR14I1 (Varview), LYPD9P (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.248695240_248695251del, NC_000001.11:g.248695241_248695251del, NC_000001.11:g.248695245_248695251del, NC_000001.11:g.248695249_248695251del, NC_000001.11:g.248695250_248695251del, NC_000001.11:g.248695251del, NC_000001.11:g.248695251dup, NC_000001.11:g.248695250_248695251dup, NC_000001.11:g.248695249_248695251dup, NC_000001.11:g.248695248_248695251dup, NC_000001.11:g.248695247_248695251dup, NC_000001.11:g.248695246_248695251dup, NC_000001.11:g.248695245_248695251dup, NC_000001.11:g.248695244_248695251dup, NC_000001.11:g.248695238_248695251dup, NC_000001.11:g.248695251_248695252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.248858541_248858552del, NC_000001.10:g.248858542_248858552del, NC_000001.10:g.248858546_248858552del, NC_000001.10:g.248858550_248858552del, NC_000001.10:g.248858551_248858552del, NC_000001.10:g.248858552del, NC_000001.10:g.248858552dup, NC_000001.10:g.248858551_248858552dup, NC_000001.10:g.248858550_248858552dup, NC_000001.10:g.248858549_248858552dup, NC_000001.10:g.248858548_248858552dup, NC_000001.10:g.248858547_248858552dup, NC_000001.10:g.248858546_248858552dup, NC_000001.10:g.248858545_248858552dup, NC_000001.10:g.248858539_248858552dup, NC_000001.10:g.248858552_248858553insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491358973 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GTTTT [Show Flanks]
      Chromosome:
      1:248695229 (GRCh38)
      1:248858531 (GRCh37)
      Canonical SPDI:
      NC_000001.11:248695229:TTTT:TTTTGTTTT
      Gene:
      OR14I1 (Varview), LYPD9P (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTGTTTT=0.00295/35 (ALFA)
      TTTTG=0.01075/792 (GnomAD)
      HGVS:
      3.

      rs1491018458 has merged into rs11296697 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        1:248697486 (GRCh38)
        1:248860787 (GRCh37)
        Canonical SPDI:
        NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        OR14I1 (Varview), LYPD9P (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        -=0.10982/550 (1000Genomes)
        HGVS:
        NC_000001.11:g.248697486_248697499del, NC_000001.11:g.248697487_248697499del, NC_000001.11:g.248697490_248697499del, NC_000001.11:g.248697491_248697499del, NC_000001.11:g.248697492_248697499del, NC_000001.11:g.248697493_248697499del, NC_000001.11:g.248697494_248697499del, NC_000001.11:g.248697495_248697499del, NC_000001.11:g.248697496_248697499del, NC_000001.11:g.248697497_248697499del, NC_000001.11:g.248697498_248697499del, NC_000001.11:g.248697499del, NC_000001.11:g.248697499dup, NC_000001.11:g.248697498_248697499dup, NC_000001.11:g.248697497_248697499dup, NC_000001.11:g.248697496_248697499dup, NC_000001.11:g.248697495_248697499dup, NC_000001.11:g.248697494_248697499dup, NC_000001.11:g.248697493_248697499dup, NC_000001.11:g.248697489_248697499dup, NC_000001.10:g.248860787_248860800del, NC_000001.10:g.248860788_248860800del, NC_000001.10:g.248860791_248860800del, NC_000001.10:g.248860792_248860800del, NC_000001.10:g.248860793_248860800del, NC_000001.10:g.248860794_248860800del, NC_000001.10:g.248860795_248860800del, NC_000001.10:g.248860796_248860800del, NC_000001.10:g.248860797_248860800del, NC_000001.10:g.248860798_248860800del, NC_000001.10:g.248860799_248860800del, NC_000001.10:g.248860800del, NC_000001.10:g.248860800dup, NC_000001.10:g.248860799_248860800dup, NC_000001.10:g.248860798_248860800dup, NC_000001.10:g.248860797_248860800dup, NC_000001.10:g.248860796_248860800dup, NC_000001.10:g.248860795_248860800dup, NC_000001.10:g.248860794_248860800dup, NC_000001.10:g.248860790_248860800dup
        4.

        rs1490988589 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:248695867 (GRCh38)
          1:248859168 (GRCh37)
          Canonical SPDI:
          NC_000001.11:248695866:C:T
          Gene:
          OR14I1 (Varview), LYPD9P (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000177/3 (TOMMO)
          T=0.001092/2 (Korea1K)
          HGVS:
          5.

          rs1490732313 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            1:248695200 (GRCh38)
            1:248858502 (GRCh37)
            Canonical SPDI:
            NC_000001.11:248695200:TTTTT:TTTTTT
            Gene:
            OR14I1 (Varview), LYPD9P (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTTTTT=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490493951 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:248695395 (GRCh38)
              1:248858696 (GRCh37)
              Canonical SPDI:
              NC_000001.11:248695394:A:G
              Gene:
              OR14I1 (Varview), LYPD9P (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1490434544 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:248699067 (GRCh38)
                1:248862368 (GRCh37)
                Canonical SPDI:
                NC_000001.11:248699066:C:T
                Gene:
                OR14I1 (Varview), LYPD9P (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.012/22 (Korea1K)
                HGVS:
                8.

                rs1490267321 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:248697654 (GRCh38)
                  1:248860955 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:248697653:A:G
                  Gene:
                  OR14I1 (Varview), LYPD9P (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.0003/1 (KOREAN)
                  HGVS:
                  9.

                  rs1490168823 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:248696434 (GRCh38)
                    1:248859735 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:248696433:G:A
                    Gene:
                    OR14I1 (Varview), LYPD9P (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_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=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489753829 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:248696879 (GRCh38)
                      1:248860180 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:248696878:G:A
                      Gene:
                      OR14I1 (Varview), LYPD9P (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_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:
                      11.

                      rs1489698242 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:248697842 (GRCh38)
                        1:248861143 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:248697841:T:C
                        Gene:
                        OR14I1 (Varview), LYPD9P (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488916895 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:248696801 (GRCh38)
                          1:248860102 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:248696800:T:C
                          Gene:
                          OR14I1 (Varview), LYPD9P (Varview)
                          Functional Consequence:
                          intron_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:
                          13.

                          rs1488780701 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            1:248697797 (GRCh38)
                            1:248861098 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:248697796:A:T
                            Gene:
                            OR14I1 (Varview), LYPD9P (Varview)
                            Functional Consequence:
                            intron_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.

                            rs1488730715 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:248695308 (GRCh38)
                              1:248858609 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:248695307:A:C
                              Gene:
                              OR14I1 (Varview), LYPD9P (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000016/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488213787 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:248698678 (GRCh38)
                                1:248861979 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:248698677:A:G
                                Gene:
                                OR14I1 (Varview), LYPD9P (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000045/12 (TOPMED)
                                HGVS:
                                16.

                                rs1487974269 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  1:248698208 (GRCh38)
                                  1:248861509 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:248698207:A:G,NC_000001.11:248698207:A:T
                                  Gene:
                                  OR14I1 (Varview), LYPD9P (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  T=0.000011/3 (TOPMED)
                                  G=0.000312/2 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1486914497 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:248696273 (GRCh38)
                                    1:248859574 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:248696272:G:A
                                    Gene:
                                    OR14I1 (Varview), LYPD9P (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_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=0.000007/1 (GnomAD)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1486773385 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      ACCAGCC>- [Show Flanks]
                                      Chromosome:
                                      1:248697586 (GRCh38)
                                      1:248860887 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:248697585:ACCAGCC:
                                      Gene:
                                      OR14I1 (Varview), LYPD9P (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000086/12 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485995911 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        1:248695126 (GRCh38)
                                        1:248858427 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:248695125:T:C,NC_000001.11:248695125:T:G
                                        Gene:
                                        OR14I1 (Varview), LYPD9P (Varview)
                                        Functional Consequence:
                                        intron_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)
                                        G=0.001092/2 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1484753113 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:248699240 (GRCh38)
                                          1:248862541 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:248699239:T:C
                                          Gene:
                                          OR14I1 (Varview), LYPD9P (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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