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Links from Gene

Items: 1 to 20 of 16778

1.

rs1491549655 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    15:100405258 (GRCh38)
    15:100945463 (GRCh37)
    Canonical SPDI:
    NC_000015.10:100405257:AC:
    Gene:
    CERS3 (Varview), CERS3-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000037/5 (GnomAD)
    HGVS:
    2.

    rs1491474464 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      15:100438036 (GRCh38)
      15:100978241 (GRCh37)
      Canonical SPDI:
      NC_000015.10:100438035:CT:
      Gene:
      CERS3 (Varview), CERS3-AS1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.00003/2 (GnomAD)
      HGVS:
      3.

      rs1491380938 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        15:100392343 (GRCh38)
        15:100932548 (GRCh37)
        Canonical SPDI:
        NC_000015.10:100392342:CA:
        Gene:
        CERS3-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491290615 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->G
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491255275 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C,G [Show Flanks]
            Chromosome:
            15:100392344 (GRCh38)
            15:100932550 (GRCh37)
            Canonical SPDI:
            NC_000015.10:100392344::C,NC_000015.10:100392344::G
            Gene:
            CERS3-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1491230471 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              15:100423096 (GRCh38)
              15:100963301 (GRCh37)
              Canonical SPDI:
              NC_000015.10:100423095:AT:
              Gene:
              CERS3 (Varview), CERS3-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000044/6 (GnomAD)
              HGVS:
              7.

              rs1491151244 has merged into rs55792026 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                15:100392355 (GRCh38)
                15:100932560 (GRCh37)
                Canonical SPDI:
                NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:100392343:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                CERS3-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000015.10:g.100392355_100392365del, NC_000015.10:g.100392357_100392365del, NC_000015.10:g.100392358_100392365del, NC_000015.10:g.100392359_100392365del, NC_000015.10:g.100392360_100392365del, NC_000015.10:g.100392361_100392365del, NC_000015.10:g.100392362_100392365del, NC_000015.10:g.100392363_100392365del, NC_000015.10:g.100392364_100392365del, NC_000015.10:g.100392365del, NC_000015.10:g.100392365dup, NC_000015.10:g.100392364_100392365dup, NC_000015.10:g.100392363_100392365dup, NC_000015.10:g.100392362_100392365dup, NC_000015.10:g.100392361_100392365dup, NC_000015.10:g.100392360_100392365dup, NC_000015.10:g.100392359_100392365dup, NC_000015.10:g.100392358_100392365dup, NC_000015.10:g.100392357_100392365dup, NC_000015.10:g.100392344_100392365dup, NC_000015.9:g.100932560_100932570del, NC_000015.9:g.100932562_100932570del, NC_000015.9:g.100932563_100932570del, NC_000015.9:g.100932564_100932570del, NC_000015.9:g.100932565_100932570del, NC_000015.9:g.100932566_100932570del, NC_000015.9:g.100932567_100932570del, NC_000015.9:g.100932568_100932570del, NC_000015.9:g.100932569_100932570del, NC_000015.9:g.100932570del, NC_000015.9:g.100932570dup, NC_000015.9:g.100932569_100932570dup, NC_000015.9:g.100932568_100932570dup, NC_000015.9:g.100932567_100932570dup, NC_000015.9:g.100932566_100932570dup, NC_000015.9:g.100932565_100932570dup, NC_000015.9:g.100932564_100932570dup, NC_000015.9:g.100932563_100932570dup, NC_000015.9:g.100932562_100932570dup, NC_000015.9:g.100932549_100932570dup
                8.

                rs1491133761 has merged into rs77853987 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>-,CC [Show Flanks]
                  Chromosome:
                  15:100405259 (GRCh38)
                  15:100945464 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:100405258:CCCC:CCC,NC_000015.10:100405258:CCCC:CCCCC
                  Gene:
                  CERS3 (Varview), CERS3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCCC=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491131782 has merged into rs56131548 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                    Chromosome:
                    15:100413784 (GRCh38)
                    15:100953989 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:100413773:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                    Gene:
                    CERS3 (Varview), CERS3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    -=0.3413/1709 (1000Genomes)
                    HGVS:
                    10.

                    rs1491066159 has merged into rs58505884 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>-,T,TTT,TTTT [Show Flanks]
                      Chromosome:
                      15:100376305 (GRCh38)
                      15:100916510 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:100376295:TTTTTTTTTTT:TTTTTTTTTTTTT
                      Gene:
                      CERS3-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTT=0./0 (ALFA)
                      T=0.0283/6 (Vietnamese)
                      T=0.04/154 (ALSPAC)
                      T=0.0488/181 (TWINSUK)
                      T=0.0567/34 (NorthernSweden)
                      T=0.1/4 (GENOME_DK)
                      T=0.1145/564 (1000Genomes)
                      HGVS:
                      11.

                      rs1491065030 has merged into rs34810954 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
                        Chromosome:
                        15:100386852 (GRCh38)
                        15:100927057 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000015.10:100386846:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
                        Gene:
                        CERS3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        TG=0.277356/1242 (Estonian)
                        TG=0.288333/173 (NorthernSweden)
                        HGVS:
                        12.

                        rs1491022682 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          15:100405249 (GRCh38)
                          15:100945454 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:100405247:ACA:A
                          Gene:
                          CERS3 (Varview), CERS3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.0032/38 (ALFA)
                          -=0.0079/282 (GnomAD)
                          HGVS:
                          13.

                          rs1490931586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            15:100383621 (GRCh38)
                            15:100923826 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:100383620:G:C
                            Gene:
                            CERS3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490926528 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:100405089 (GRCh38)
                              15:100945294 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:100405088:C:T
                              Gene:
                              CERS3 (Varview), CERS3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1490878896 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:100397226 (GRCh38)
                                15:100937431 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:100397225:C:T
                                Gene:
                                CERS3-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000156/1 (1000Genomes)
                                T=0.000318/5 (TOMMO)
                                T=0.000546/1 (Korea1K)
                                HGVS:
                                16.

                                rs1490826921 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  15:100434033 (GRCh38)
                                  15:100974238 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:100434032:C:G
                                  Gene:
                                  CERS3 (Varview), CERS3-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000084/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490758255 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    15:100417798 (GRCh38)
                                    15:100958003 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:100417797:G:A,NC_000015.10:100417797:G:C
                                    Gene:
                                    CERS3 (Varview), CERS3-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490690863 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:100428534 (GRCh38)
                                      15:100968739 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:100428533:C:T
                                      Gene:
                                      CERS3 (Varview), CERS3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490653969 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:100385193 (GRCh38)
                                        15:100925398 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:100385192:C:T
                                        Gene:
                                        CERS3-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490622016 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          15:100405209 (GRCh38)
                                          15:100945414 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:100405208:T:A
                                          Gene:
                                          CERS3 (Varview), CERS3-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.00093/11 (ALFA)
                                          HGVS:

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