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.

rs1491585664 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    2:163704625 (GRCh38)
    2:164561135 (GRCh37)
    Canonical SPDI:
    NC_000002.12:163704623:TTT:T
    Gene:
    FIGN (Varview), LOC107985957 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.000279/35 (GnomAD)
    -=0.000468/3 (1000Genomes)
    HGVS:

    2.

    rs1491560595 has merged into rs71015599 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      2:163660894 (GRCh38)
      2:164517404 (GRCh37)
      Canonical SPDI:
      NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163660879:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      FIGN (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.163660894_163660905del, NC_000002.12:g.163660895_163660905del, NC_000002.12:g.163660896_163660905del, NC_000002.12:g.163660897_163660905del, NC_000002.12:g.163660898_163660905del, NC_000002.12:g.163660899_163660905del, NC_000002.12:g.163660900_163660905del, NC_000002.12:g.163660901_163660905del, NC_000002.12:g.163660902_163660905del, NC_000002.12:g.163660903_163660905del, NC_000002.12:g.163660904_163660905del, NC_000002.12:g.163660905del, NC_000002.12:g.163660905dup, NC_000002.12:g.163660904_163660905dup, NC_000002.12:g.163660903_163660905dup, NC_000002.12:g.163660902_163660905dup, NC_000002.12:g.163660901_163660905dup, NC_000002.12:g.163660900_163660905dup, NC_000002.12:g.163660898_163660905dup, NC_000002.11:g.164517404_164517415del, NC_000002.11:g.164517405_164517415del, NC_000002.11:g.164517406_164517415del, NC_000002.11:g.164517407_164517415del, NC_000002.11:g.164517408_164517415del, NC_000002.11:g.164517409_164517415del, NC_000002.11:g.164517410_164517415del, NC_000002.11:g.164517411_164517415del, NC_000002.11:g.164517412_164517415del, NC_000002.11:g.164517413_164517415del, NC_000002.11:g.164517414_164517415del, NC_000002.11:g.164517415del, NC_000002.11:g.164517415dup, NC_000002.11:g.164517414_164517415dup, NC_000002.11:g.164517413_164517415dup, NC_000002.11:g.164517412_164517415dup, NC_000002.11:g.164517411_164517415dup, NC_000002.11:g.164517410_164517415dup, NC_000002.11:g.164517408_164517415dup

      3.

      rs1491524841 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATG,ATATATATG,ATATATATGTATACATATATATATATATATATATG,ATATG,ATG,G,GTATATA,GTATATATA [Show Flanks]
        Chromosome:
        2:163660880 (GRCh38)
        2:164517391 (GRCh37)
        Canonical SPDI:
        NC_000002.12:163660880::A,NC_000002.12:163660880::ATA,NC_000002.12:163660880::ATATA,NC_000002.12:163660880::ATATATA,NC_000002.12:163660880::ATATATATA,NC_000002.12:163660880::ATATATATATA,NC_000002.12:163660880::ATATATATATATA,NC_000002.12:163660880::ATATATATATATATA,NC_000002.12:163660880::ATATATATATG,NC_000002.12:163660880::ATATATATG,NC_000002.12:163660880::ATATATATGTATACATATATATATATATATATATG,NC_000002.12:163660880::ATATG,NC_000002.12:163660880::ATG,NC_000002.12:163660880::G,NC_000002.12:163660880::GTATATA,NC_000002.12:163660880::GTATATATA
        Gene:
        FIGN (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATA=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.163660880_163660881insA, NC_000002.12:g.163660880_163660881insATA, NC_000002.12:g.163660880_163660881insATATA, NC_000002.12:g.163660880_163660881insATATATA, NC_000002.12:g.163660880_163660881insATATATATA, NC_000002.12:g.163660880_163660881insATATATATATA, NC_000002.12:g.163660880_163660881insATATATATATATA, NC_000002.12:g.163660880_163660881insATATATATATATATA, NC_000002.12:g.163660880_163660881insATATATATATG, NC_000002.12:g.163660880_163660881insATATATATG, NC_000002.12:g.163660880_163660881insATATATATGTATACATATATATATATATATATATG, NC_000002.12:g.163660880_163660881insATATG, NC_000002.12:g.163660880_163660881insATG, NC_000002.12:g.163660880_163660881insG, NC_000002.12:g.163660880_163660881insGTATATA, NC_000002.12:g.163660880_163660881insGTATATATA, NC_000002.11:g.164517390_164517391insA, NC_000002.11:g.164517390_164517391insATA, NC_000002.11:g.164517390_164517391insATATA, NC_000002.11:g.164517390_164517391insATATATA, NC_000002.11:g.164517390_164517391insATATATATA, NC_000002.11:g.164517390_164517391insATATATATATA, NC_000002.11:g.164517390_164517391insATATATATATATA, NC_000002.11:g.164517390_164517391insATATATATATATATA, NC_000002.11:g.164517390_164517391insATATATATATG, NC_000002.11:g.164517390_164517391insATATATATG, NC_000002.11:g.164517390_164517391insATATATATGTATACATATATATATATATATATATG, NC_000002.11:g.164517390_164517391insATATG, NC_000002.11:g.164517390_164517391insATG, NC_000002.11:g.164517390_164517391insG, NC_000002.11:g.164517390_164517391insGTATATA, NC_000002.11:g.164517390_164517391insGTATATATA

        4.

        rs1491513820 has merged into rs369275881 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
          Chromosome:
          2:163704679 (GRCh38)
          2:164561189 (GRCh37)
          Canonical SPDI:
          NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000002.12:163704656:CACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA
          Gene:
          FIGN (Varview), LOC107985957 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACACACACACACACA=0./0 (ALFA)
          HGVS:

          5.

          rs1491509091 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AC>- [Show Flanks]
            Chromosome:
            2:163676484 (GRCh38)
            2:164532994 (GRCh37)
            Canonical SPDI:
            NC_000002.12:163676483:AC:
            Gene:
            FIGN (Varview), LOC107985957 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.00169/20 (ALFA)
            -=0.00236/39 (TOMMO)
            -=0.00404/182 (GnomAD)
            HGVS:

            6.

            rs1491497575 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TT>- [Show Flanks]
              Chromosome:
              2:163612769 (GRCh38)
              2:164469279 (GRCh37)
              Canonical SPDI:
              NC_000002.12:163612768:TT:
              Gene:
              FIGN (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.000084/1 (ALFA)
              -=0.000041/5 (GnomAD)
              HGVS:

              7.

              rs1491436725 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                2:163684939 (GRCh38)
                2:164541449 (GRCh37)
                Canonical SPDI:
                NC_000002.12:163684937:TAT:T
                Gene:
                FIGN (Varview), LOC107985957 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by cluster
                HGVS:

                8.

                rs1491432139 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->T,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT,TATATATATATATAT,TATATATATATATATAT,TATATATATCTAT,TATATATCTAT,TATATATCTATCTAT,TATATCTAT,TATATCTATCTATCTAT,TATCTAT,TCT,TCTAT [Show Flanks]
                  Chromosome:
                  2:163676484 (GRCh38)
                  2:164532995 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:163676484::T,NC_000002.12:163676484::TAT,NC_000002.12:163676484::TATAT,NC_000002.12:163676484::TATATAT,NC_000002.12:163676484::TATATATAT,NC_000002.12:163676484::TATATATATAT,NC_000002.12:163676484::TATATATATATAT,NC_000002.12:163676484::TATATATATATATAT,NC_000002.12:163676484::TATATATATATATATAT,NC_000002.12:163676484::TATATATATCTAT,NC_000002.12:163676484::TATATATCTAT,NC_000002.12:163676484::TATATATCTATCTAT,NC_000002.12:163676484::TATATCTAT,NC_000002.12:163676484::TATATCTATCTATCTAT,NC_000002.12:163676484::TATCTAT,NC_000002.12:163676484::TCT,NC_000002.12:163676484::TCTAT
                  Gene:
                  FIGN (Varview), LOC107985957 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000002.12:g.163676484_163676485insT, NC_000002.12:g.163676484_163676485insTAT, NC_000002.12:g.163676484_163676485insTATAT, NC_000002.12:g.163676484_163676485insTATATAT, NC_000002.12:g.163676484_163676485insTATATATAT, NC_000002.12:g.163676484_163676485insTATATATATAT, NC_000002.12:g.163676484_163676485insTATATATATATAT, NC_000002.12:g.163676484_163676485insTATATATATATATAT, NC_000002.12:g.163676484_163676485insTATATATATATATATAT, NC_000002.12:g.163676484_163676485insTATATATATCTAT, NC_000002.12:g.163676484_163676485insTATATATCTAT, NC_000002.12:g.163676484_163676485insTATATATCTATCTAT, NC_000002.12:g.163676484_163676485insTATATCTAT, NC_000002.12:g.163676484_163676485insTATATCTATCTATCTAT, NC_000002.12:g.163676484_163676485insTATCTAT, NC_000002.12:g.163676484_163676485insTCT, NC_000002.12:g.163676484_163676485insTCTAT, NC_000002.11:g.164532994_164532995insT, NC_000002.11:g.164532994_164532995insTAT, NC_000002.11:g.164532994_164532995insTATAT, NC_000002.11:g.164532994_164532995insTATATAT, NC_000002.11:g.164532994_164532995insTATATATAT, NC_000002.11:g.164532994_164532995insTATATATATAT, NC_000002.11:g.164532994_164532995insTATATATATATAT, NC_000002.11:g.164532994_164532995insTATATATATATATAT, NC_000002.11:g.164532994_164532995insTATATATATATATATAT, NC_000002.11:g.164532994_164532995insTATATATATCTAT, NC_000002.11:g.164532994_164532995insTATATATCTAT, NC_000002.11:g.164532994_164532995insTATATATCTATCTAT, NC_000002.11:g.164532994_164532995insTATATCTAT, NC_000002.11:g.164532994_164532995insTATATCTATCTATCTAT, NC_000002.11:g.164532994_164532995insTATCTAT, NC_000002.11:g.164532994_164532995insTCT, NC_000002.11:g.164532994_164532995insTCTAT, XR_001739759.2:n.54736_54737insA, XR_001739759.2:n.54736_54737insATA, XR_001739759.2:n.54736_54737insATATA, XR_001739759.2:n.54736_54737insATATATA, XR_001739759.2:n.54736_54737insATATATATA, XR_001739759.2:n.54736_54737insATATATATATA, XR_001739759.2:n.54736_54737insATATATATATATA, XR_001739759.2:n.54736_54737insATATATATATATATA, XR_001739759.2:n.54736_54737insATATATATATATATATA, XR_001739759.2:n.54736_54737insATAGATATATATA, XR_001739759.2:n.54736_54737insATAGATATATA, XR_001739759.2:n.54736_54737insATAGATAGATATATA, XR_001739759.2:n.54736_54737insATAGATATA, XR_001739759.2:n.54736_54737insATAGATAGATAGATATA, XR_001739759.2:n.54736_54737insATAGATA, XR_001739759.2:n.54736_54737insAGA, XR_001739759.2:n.54736_54737insATAGA

                  9.

                  rs1491426316 has merged into rs10592741 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT [Show Flanks]
                    Chromosome:
                    2:163612762 (GRCh38)
                    2:164469272 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000002.12:163612749:ATATATATATATATATATAT:ATATATATATATATATATATATATATAT
                    Gene:
                    FIGN (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATATATATATAT=0./0 (ALFA)
                    -=0.4898/2453 (1000Genomes)
                    AT=0.5/20 (GENOME_DK)
                    HGVS:

                    10.

                    rs1491421397 has merged into rs58519537 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                      Chromosome:
                      2:163689189 (GRCh38)
                      2:164545699 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:163689173:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                      Gene:
                      FIGN (Varview), LOC107985957 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ACACACACACACACACACA=0./0 (ALFA)
                      -=0./0 (GENOME_DK)
                      -=0.0284/142 (1000Genomes)
                      HGVS:
                      NC_000002.12:g.163689175CA[7], NC_000002.12:g.163689175CA[9], NC_000002.12:g.163689175CA[10], NC_000002.12:g.163689175CA[12], NC_000002.12:g.163689175CA[13], NC_000002.12:g.163689175CA[14], NC_000002.12:g.163689175CA[15], NC_000002.12:g.163689175CA[16], NC_000002.12:g.163689175CA[17], NC_000002.12:g.163689175CA[18], NC_000002.12:g.163689175CA[19], NC_000002.12:g.163689175CA[20], NC_000002.12:g.163689175CA[21], NC_000002.12:g.163689175CA[22], NC_000002.12:g.163689175CA[23], NC_000002.12:g.163689175CA[24], NC_000002.12:g.163689175CA[25], NC_000002.12:g.163689175CA[26], NC_000002.12:g.163689175CA[27], NC_000002.12:g.163689175CA[28], NC_000002.11:g.164545685CA[7], NC_000002.11:g.164545685CA[9], NC_000002.11:g.164545685CA[10], NC_000002.11:g.164545685CA[12], NC_000002.11:g.164545685CA[13], NC_000002.11:g.164545685CA[14], NC_000002.11:g.164545685CA[15], NC_000002.11:g.164545685CA[16], NC_000002.11:g.164545685CA[17], NC_000002.11:g.164545685CA[18], NC_000002.11:g.164545685CA[19], NC_000002.11:g.164545685CA[20], NC_000002.11:g.164545685CA[21], NC_000002.11:g.164545685CA[22], NC_000002.11:g.164545685CA[23], NC_000002.11:g.164545685CA[24], NC_000002.11:g.164545685CA[25], NC_000002.11:g.164545685CA[26], NC_000002.11:g.164545685CA[27], NC_000002.11:g.164545685CA[28], XR_001739759.2:n.42026GT[7], XR_001739759.2:n.42026GT[9], XR_001739759.2:n.42026GT[10], XR_001739759.2:n.42026GT[12], XR_001739759.2:n.42026GT[13], XR_001739759.2:n.42026GT[14], XR_001739759.2:n.42026GT[15], XR_001739759.2:n.42026GT[16], XR_001739759.2:n.42026GT[17], XR_001739759.2:n.42026GT[18], XR_001739759.2:n.42026GT[19], XR_001739759.2:n.42026GT[20], XR_001739759.2:n.42026GT[21], XR_001739759.2:n.42026GT[22], XR_001739759.2:n.42026GT[23], XR_001739759.2:n.42026GT[24], XR_001739759.2:n.42026GT[25], XR_001739759.2:n.42026GT[26], XR_001739759.2:n.42026GT[27], XR_001739759.2:n.42026GT[28]

                      11.

                      rs1491419301 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        2:163629953 (GRCh38)
                        2:164486464 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:163629953::C
                        Gene:
                        FIGN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.00002/1 (GnomAD)
                        HGVS:

                        12.

                        rs1491416202 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CA [Show Flanks]
                          Chromosome:
                          2:163686759 (GRCh38)
                          2:164543270 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:163686759:A:ACA
                          Gene:
                          FIGN (Varview), LOC107985957 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ACA=0.00005/1 (ALFA)
                          HGVS:

                          13.

                          rs1491386168 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TAAA,TATAAA,TATATAAA [Show Flanks]
                            Chromosome:
                            2:163676482 (GRCh38)
                            2:164532993 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:163676482:A:ATAAA,NC_000002.12:163676482:A:ATATAAA,NC_000002.12:163676482:A:ATATATAAA
                            Gene:
                            FIGN (Varview), LOC107985957 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATAAA=0./0 (ALFA)
                            ATATAA=0.00004/1 (TOMMO)
                            HGVS:

                            14.

                            rs1491359778 has merged into rs71297448 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              2:163629965 (GRCh38)
                              2:164486475 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:163629952:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              FIGN (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTT=0./0 (ALFA)
                              TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00172/1 (NorthernSweden)
                              -=0.00986/38 (ALSPAC)
                              -=0.01079/40 (TWINSUK)
                              HGVS:
                              NC_000002.12:g.163629965_163629982del, NC_000002.12:g.163629966_163629982del, NC_000002.12:g.163629967_163629982del, NC_000002.12:g.163629968_163629982del, NC_000002.12:g.163629969_163629982del, NC_000002.12:g.163629970_163629982del, NC_000002.12:g.163629971_163629982del, NC_000002.12:g.163629972_163629982del, NC_000002.12:g.163629973_163629982del, NC_000002.12:g.163629974_163629982del, NC_000002.12:g.163629975_163629982del, NC_000002.12:g.163629976_163629982del, NC_000002.12:g.163629977_163629982del, NC_000002.12:g.163629978_163629982del, NC_000002.12:g.163629979_163629982del, NC_000002.12:g.163629980_163629982del, NC_000002.12:g.163629981_163629982del, NC_000002.12:g.163629982del, NC_000002.12:g.163629982dup, NC_000002.12:g.163629981_163629982dup, NC_000002.12:g.163629980_163629982dup, NC_000002.12:g.163629979_163629982dup, NC_000002.12:g.163629978_163629982dup, NC_000002.12:g.163629977_163629982dup, NC_000002.12:g.163629976_163629982dup, NC_000002.12:g.163629975_163629982dup, NC_000002.12:g.163629974_163629982dup, NC_000002.12:g.163629973_163629982dup, NC_000002.12:g.163629972_163629982dup, NC_000002.12:g.163629971_163629982dup, NC_000002.12:g.163629970_163629982dup, NC_000002.12:g.163629969_163629982dup, NC_000002.12:g.163629968_163629982dup, NC_000002.12:g.163629967_163629982dup, NC_000002.12:g.163629966_163629982dup, NC_000002.12:g.163629964_163629982dup, NC_000002.12:g.163629982_163629983insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.164486475_164486492del, NC_000002.11:g.164486476_164486492del, NC_000002.11:g.164486477_164486492del, NC_000002.11:g.164486478_164486492del, NC_000002.11:g.164486479_164486492del, NC_000002.11:g.164486480_164486492del, NC_000002.11:g.164486481_164486492del, NC_000002.11:g.164486482_164486492del, NC_000002.11:g.164486483_164486492del, NC_000002.11:g.164486484_164486492del, NC_000002.11:g.164486485_164486492del, NC_000002.11:g.164486486_164486492del, NC_000002.11:g.164486487_164486492del, NC_000002.11:g.164486488_164486492del, NC_000002.11:g.164486489_164486492del, NC_000002.11:g.164486490_164486492del, NC_000002.11:g.164486491_164486492del, NC_000002.11:g.164486492del, NC_000002.11:g.164486492dup, NC_000002.11:g.164486491_164486492dup, NC_000002.11:g.164486490_164486492dup, NC_000002.11:g.164486489_164486492dup, NC_000002.11:g.164486488_164486492dup, NC_000002.11:g.164486487_164486492dup, NC_000002.11:g.164486486_164486492dup, NC_000002.11:g.164486485_164486492dup, NC_000002.11:g.164486484_164486492dup, NC_000002.11:g.164486483_164486492dup, NC_000002.11:g.164486482_164486492dup, NC_000002.11:g.164486481_164486492dup, NC_000002.11:g.164486480_164486492dup, NC_000002.11:g.164486479_164486492dup, NC_000002.11:g.164486478_164486492dup, NC_000002.11:g.164486477_164486492dup, NC_000002.11:g.164486476_164486492dup, NC_000002.11:g.164486474_164486492dup, NC_000002.11:g.164486492_164486493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                              15.

                              rs1491354284 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AACACACACACACACA,ACACACACACACACACACA [Show Flanks]
                                Chromosome:
                                2:163689173 (GRCh38)
                                2:164545684 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:163689173:A:AAACACACACACACACA,NC_000002.12:163689173:A:AACACACACACACACACACA
                                Gene:
                                FIGN (Varview), LOC107985957 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                AAACACACACACACAC=0.000022/3 (GnomAD)
                                HGVS:

                                16.

                                rs1491348341 has merged into rs144392438 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AC>-,ACAC,ACACAC [Show Flanks]
                                  Chromosome:
                                  2:163684183 (GRCh38)
                                  2:164540693 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:163684166:ACACACACACACACACAC:ACACACACACACACAC,NC_000002.12:163684166:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:163684166:ACACACACACACACACAC:ACACACACACACACACACACAC
                                  Gene:
                                  FIGN (Varview), LOC107985957 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ACACACACACACACACACACAC=0./0 (ALFA)
                                  -=0.002/2 (GoNL)
                                  -=0.01438/241 (TOMMO)
                                  -=0.02804/6 (Vietnamese)
                                  -=0.0619/310 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1491296417 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    2:163612769 (GRCh38)
                                    2:164469280 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:163612769::A
                                    Gene:
                                    FIGN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000156/1 (1000Genomes)
                                    A=0.000419/51 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491281487 has merged into rs57547572 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC [Show Flanks]
                                      Chromosome:
                                      2:163668024 (GRCh38)
                                      2:164524534 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000002.12:163668014:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC
                                      Gene:
                                      FIGN (Varview), LOC107985957 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCCCCCCCCCCCCCCC=0./0 (ALFA)
                                      -=0.056663/14998 (TOPMED)
                                      -=0.058506/293 (1000Genomes)
                                      -=0.15/6 (GENOME_DK)
                                      HGVS:
                                      NC_000002.12:g.163668024_163668025del, NC_000002.12:g.163668025del, NC_000002.12:g.163668025dup, NC_000002.12:g.163668024_163668025dup, NC_000002.12:g.163668023_163668025dup, NC_000002.12:g.163668022_163668025dup, NC_000002.12:g.163668021_163668025dup, NC_000002.12:g.163668020_163668025dup, NC_000002.12:g.163668018_163668025dup, NC_000002.11:g.164524534_164524535del, NC_000002.11:g.164524535del, NC_000002.11:g.164524535dup, NC_000002.11:g.164524534_164524535dup, NC_000002.11:g.164524533_164524535dup, NC_000002.11:g.164524532_164524535dup, NC_000002.11:g.164524531_164524535dup, NC_000002.11:g.164524530_164524535dup, NC_000002.11:g.164524528_164524535dup, NG_075575.1:g.446_447del, NG_075575.1:g.447del, NG_075575.1:g.447dup, NG_075575.1:g.446_447dup, NG_075575.1:g.445_447dup, NG_075575.1:g.444_447dup, NG_075575.1:g.443_447dup, NG_075575.1:g.442_447dup, NG_075575.1:g.440_447dup, XR_001739759.2:n.63205_63206del, XR_001739759.2:n.63206del, XR_001739759.2:n.63206dup, XR_001739759.2:n.63205_63206dup, XR_001739759.2:n.63204_63206dup, XR_001739759.2:n.63203_63206dup, XR_001739759.2:n.63202_63206dup, XR_001739759.2:n.63201_63206dup, XR_001739759.2:n.63199_63206dup

                                      19.

                                      rs1491217730 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GT>- [Show Flanks]
                                        Chromosome:
                                        2:163675730 (GRCh38)
                                        2:164532240 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:163675728:TGT:T
                                        Gene:
                                        FIGN (Varview), LOC107985957 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.00036/10 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1491204332 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TG>- [Show Flanks]
                                          Chromosome:
                                          2:163718840 (GRCh38)
                                          2:164575350 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:163718838:GTG:G
                                          Gene:
                                          FIGN (Varview), LOC107985957 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.002951/35 (ALFA)
                                          -=0.000603/10 (TOMMO)
                                          -=0.004382/598 (GnomAD)
                                          -=0.01699/63 (TWINSUK)
                                          -=0.020239/78 (ALSPAC)
                                          -=0.03548/65 (Korea1K)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...