U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491553490 has merged into rs71313209 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    8:142207981 (GRCh38)
    8:143289342 (GRCh37)
    Canonical SPDI:
    NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:142207969:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC00051 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    AAA=0.3688/1847 (1000Genomes)
    HGVS:
    NC_000008.11:g.142207981_142207990del, NC_000008.11:g.142207982_142207990del, NC_000008.11:g.142207983_142207990del, NC_000008.11:g.142207984_142207990del, NC_000008.11:g.142207985_142207990del, NC_000008.11:g.142207986_142207990del, NC_000008.11:g.142207987_142207990del, NC_000008.11:g.142207988_142207990del, NC_000008.11:g.142207989_142207990del, NC_000008.11:g.142207990del, NC_000008.11:g.142207990dup, NC_000008.11:g.142207989_142207990dup, NC_000008.11:g.142207988_142207990dup, NC_000008.11:g.142207987_142207990dup, NC_000008.11:g.142207986_142207990dup, NC_000008.11:g.142207985_142207990dup, NC_000008.11:g.142207984_142207990dup, NC_000008.11:g.142207983_142207990dup, NC_000008.11:g.142207982_142207990dup, NC_000008.11:g.142207981_142207990dup, NC_000008.11:g.142207980_142207990dup, NC_000008.11:g.142207979_142207990dup, NC_000008.11:g.142207978_142207990dup, NC_000008.11:g.142207977_142207990dup, NC_000008.11:g.142207976_142207990dup, NC_000008.11:g.142207975_142207990dup, NC_000008.11:g.142207974_142207990dup, NC_000008.11:g.142207973_142207990dup, NC_000008.11:g.142207972_142207990dup, NC_000008.11:g.142207971_142207990dup, NC_000008.11:g.142207970_142207990dup, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207990_142207991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.142207970_142207990A[34]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.143289342_143289351del, NC_000008.10:g.143289343_143289351del, NC_000008.10:g.143289344_143289351del, NC_000008.10:g.143289345_143289351del, NC_000008.10:g.143289346_143289351del, NC_000008.10:g.143289347_143289351del, NC_000008.10:g.143289348_143289351del, NC_000008.10:g.143289349_143289351del, NC_000008.10:g.143289350_143289351del, NC_000008.10:g.143289351del, NC_000008.10:g.143289351dup, NC_000008.10:g.143289350_143289351dup, NC_000008.10:g.143289349_143289351dup, NC_000008.10:g.143289348_143289351dup, NC_000008.10:g.143289347_143289351dup, NC_000008.10:g.143289346_143289351dup, NC_000008.10:g.143289345_143289351dup, NC_000008.10:g.143289344_143289351dup, NC_000008.10:g.143289343_143289351dup, NC_000008.10:g.143289342_143289351dup, NC_000008.10:g.143289341_143289351dup, NC_000008.10:g.143289340_143289351dup, NC_000008.10:g.143289339_143289351dup, NC_000008.10:g.143289338_143289351dup, NC_000008.10:g.143289337_143289351dup, NC_000008.10:g.143289336_143289351dup, NC_000008.10:g.143289335_143289351dup, NC_000008.10:g.143289334_143289351dup, NC_000008.10:g.143289333_143289351dup, NC_000008.10:g.143289332_143289351dup, NC_000008.10:g.143289331_143289351dup, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289351_143289352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.143289331_143289351A[34]GAAAAAAAAAAAAAAAAAAAAAAA[1]
    2.

    rs1491509721 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->GGTA [Show Flanks]
      Chromosome:
      8:142207413 (GRCh38)
      8:143288775 (GRCh37)
      Canonical SPDI:
      NC_000008.11:142207413::GGTA
      Gene:
      LINC00051 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      GGTA=0.00021/4 (TOMMO)
      HGVS:
      3.

      rs1491462571 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        8:142207414 (GRCh38)
        8:143288775 (GRCh37)
        Canonical SPDI:
        NC_000008.11:142207412:GTG:G
        Gene:
        LINC00051 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.00062/4 (1000Genomes)
        -=0.00083/14 (TOMMO)
        HGVS:
        4.

        rs1491402319 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          8:142207969 (GRCh38)
          8:143289330 (GRCh37)
          Canonical SPDI:
          NC_000008.11:142207968:CA:
          Gene:
          LINC00051 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1491203404 has merged into rs10622353 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AC>-,ACAC,ACACAC [Show Flanks]
            Chromosome:
            8:142205086 (GRCh38)
            8:143286447 (GRCh37)
            Canonical SPDI:
            NC_000008.11:142205079:ACACACAC:ACACAC,NC_000008.11:142205079:ACACACAC:ACACACACAC,NC_000008.11:142205079:ACACACAC:ACACACACACAC
            Gene:
            LINC00051 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ACACACACACAC=0./0 (ALFA)
            AC=0.06833/41 (NorthernSweden)
            AC=0.13259/664 (1000Genomes)
            AC=0.18164/3044 (TOMMO)
            AC=0.21234/389 (Korea1K)
            HGVS:
            6.

            rs1490489357 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              8:142205248 (GRCh38)
              8:143286609 (GRCh37)
              Canonical SPDI:
              NC_000008.11:142205247:C:G,NC_000008.11:142205247:C:T
              Gene:
              LINC00051 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1490019913 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:142196966 (GRCh38)
                8:143278327 (GRCh37)
                Canonical SPDI:
                NC_000008.11:142196965:C:T
                Gene:
                LINC00051 (Varview), LOC105375792 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489985899 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  ->AAAAAAAAAAAACAAAA
                  Chromosome:
                  no mapping
                  Canonical SPDI:
                  9.

                  rs1489575723 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    8:142205927 (GRCh38)
                    8:143287288 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:142205926:T:G
                    Gene:
                    LINC00051 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489477192 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:142206328 (GRCh38)
                      8:143287689 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:142206327:T:C
                      Gene:
                      LINC00051 (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:
                      11.

                      rs1489198189 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        8:142207159 (GRCh38)
                        8:143288520 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:142207158:A:G
                        Gene:
                        LINC00051 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1488359118 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:142200471 (GRCh38)
                          8:143281832 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:142200470:G:A
                          Gene:
                          LINC00051 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488327512 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            8:142199473 (GRCh38)
                            8:143280834 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:142199472:C:T
                            Gene:
                            LINC00051 (Varview), LOC105375792 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487395778 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              8:142202534 (GRCh38)
                              8:143283895 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:142202533:T:A
                              Gene:
                              LINC00051 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1487189716 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:142196801 (GRCh38)
                                8:143278162 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:142196800:G:A
                                Gene:
                                LINC00051 (Varview), LOC105375792 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487025915 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:142205468 (GRCh38)
                                  8:143286829 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:142205467:C:T
                                  Gene:
                                  LINC00051 (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:
                                  17.

                                  rs1486785682 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:142202521 (GRCh38)
                                    8:143283882 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:142202520:G:A
                                    Gene:
                                    LINC00051 (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)
                                    HGVS:
                                    18.

                                    rs1486774679 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:142198975 (GRCh38)
                                      8:143280336 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:142198974:A:T
                                      Gene:
                                      LINC00051 (Varview), LOC105375792 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486742180 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:142198240 (GRCh38)
                                        8:143279601 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:142198239:A:G
                                        Gene:
                                        LINC00051 (Varview), LOC105375792 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486572201 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC,AAAT,AAT,AG [Show Flanks]
                                          Chromosome:
                                          8:142207990 (GRCh38)
                                          8:143289352 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:142207990::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC,NC_000008.11:142207990::AAAT,NC_000008.11:142207990::AAT,NC_000008.11:142207990::AG
                                          Gene:
                                          LINC00051 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AG=0./0 (ALFA)
                                          AAT=0.000004/1 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...