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 147672

1.

rs1491587789 has merged into rs71698425 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    5:169238553 (GRCh38)
    5:168665557 (GRCh37)
    Canonical SPDI:
    NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169238543:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SLIT3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.4784/2396 (1000Genomes)
    HGVS:
    NC_000005.10:g.169238553_169238563del, NC_000005.10:g.169238558_169238563del, NC_000005.10:g.169238559_169238563del, NC_000005.10:g.169238560_169238563del, NC_000005.10:g.169238561_169238563del, NC_000005.10:g.169238562_169238563del, NC_000005.10:g.169238563del, NC_000005.10:g.169238563dup, NC_000005.10:g.169238562_169238563dup, NC_000005.10:g.169238544_169238563T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.169238561_169238563dup, NC_000005.10:g.169238560_169238563dup, NC_000005.10:g.169238559_169238563dup, NC_000005.10:g.169238558_169238563dup, NC_000005.10:g.169238557_169238563dup, NC_000005.10:g.169238556_169238563dup, NC_000005.10:g.169238555_169238563dup, NC_000005.10:g.169238546_169238563dup, NC_000005.10:g.169238563_169238564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.169238563_169238564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.168665557_168665567del, NC_000005.9:g.168665562_168665567del, NC_000005.9:g.168665563_168665567del, NC_000005.9:g.168665564_168665567del, NC_000005.9:g.168665565_168665567del, NC_000005.9:g.168665566_168665567del, NC_000005.9:g.168665567del, NC_000005.9:g.168665567dup, NC_000005.9:g.168665566_168665567dup, NC_000005.9:g.168665548_168665567T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.168665565_168665567dup, NC_000005.9:g.168665564_168665567dup, NC_000005.9:g.168665563_168665567dup, NC_000005.9:g.168665562_168665567dup, NC_000005.9:g.168665561_168665567dup, NC_000005.9:g.168665560_168665567dup, NC_000005.9:g.168665559_168665567dup, NC_000005.9:g.168665550_168665567dup, NC_000005.9:g.168665567_168665568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.168665567_168665568insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033081.1:g.67576_67586del, NG_033081.1:g.67581_67586del, NG_033081.1:g.67582_67586del, NG_033081.1:g.67583_67586del, NG_033081.1:g.67584_67586del, NG_033081.1:g.67585_67586del, NG_033081.1:g.67586del, NG_033081.1:g.67586dup, NG_033081.1:g.67585_67586dup, NG_033081.1:g.67567_67586A[45]GAAATAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAA[1], NG_033081.1:g.67584_67586dup, NG_033081.1:g.67583_67586dup, NG_033081.1:g.67582_67586dup, NG_033081.1:g.67581_67586dup, NG_033081.1:g.67580_67586dup, NG_033081.1:g.67579_67586dup, NG_033081.1:g.67578_67586dup, NG_033081.1:g.67569_67586dup, NG_033081.1:g.67586_67587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033081.1:g.67586_67587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491583870 has merged into rs1554138524 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>-,CTCT [Show Flanks]
      Chromosome:
      5:168755425 (GRCh38)
      5:168182430 (GRCh37)
      Canonical SPDI:
      NC_000005.10:168755423:TCT:T,NC_000005.10:168755423:TCT:TCTCT
      Gene:
      SLIT3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCTCT=0./0 (ALFA)
      -=0.00032/4 (TOMMO)
      HGVS:
      3.

      rs1491581805 has merged into rs1158252144 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTCTTTT,TTTT [Show Flanks]
        Chromosome:
        5:168755419 (GRCh38)
        5:168182424 (GRCh37)
        Canonical SPDI:
        NC_000005.10:168755417:TTT:T,NC_000005.10:168755417:TTT:TT,NC_000005.10:168755417:TTT:TTTT,NC_000005.10:168755417:TTT:TTTTCTTTT,NC_000005.10:168755417:TTT:TTTTT
        Gene:
        SLIT3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1491580046 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CCT,CTTTCT [Show Flanks]
          Chromosome:
          5:168755430 (GRCh38)
          5:168182436 (GRCh37)
          Canonical SPDI:
          NC_000005.10:168755430:T:TCCT,NC_000005.10:168755430:T:TCTTTCT
          Gene:
          SLIT3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TCTTTCT=0./0 (ALFA)
          TCC=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491577139 has merged into rs1425717076 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>-,GAGA,GAGAGA [Show Flanks]
            Chromosome:
            5:168884549 (GRCh38)
            5:168311554 (GRCh37)
            Canonical SPDI:
            NC_000005.10:168884546:GAGA:GA,NC_000005.10:168884546:GAGA:GAGAGA,NC_000005.10:168884546:GAGA:GAGAGAGA
            Gene:
            SLIT3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            GAGAGA=0./0 (ALFA)
            -=0.00041/4 (GnomAD)
            HGVS:
            6.

            rs1491575999 has merged into rs72344992 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTT>-,TTTT,TTTTTT,TTTTTTT [Show Flanks]
              Chromosome:
              5:169229220 (GRCh38)
              5:168656224 (GRCh37)
              Canonical SPDI:
              NC_000005.10:169229214:TTTTTTTTTT:TTTTT,NC_000005.10:169229214:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:169229214:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:169229214:TTTTTTTTTT:TTTTTTTTTTTT
              Gene:
              SLIT3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0.0005/7 (ALFA)
              -=0.001136/5 (1000Genomes)
              T=0.068794/18209 (TOPMED)
              T=0.084009/373 (Estonian)
              HGVS:
              7.

              rs1491573970 has merged into rs35743496 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                5:169011958 (GRCh38)
                5:168438963 (GRCh37)
                Canonical SPDI:
                NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169011946:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                SLIT3 (Varview), SLIT3-AS1 (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                T=0.372/1863 (1000Genomes)
                HGVS:
                NC_000005.10:g.169011958_169011960del, NC_000005.10:g.169011959_169011960del, NC_000005.10:g.169011960del, NC_000005.10:g.169011960dup, NC_000005.10:g.169011959_169011960dup, NC_000005.10:g.169011958_169011960dup, NC_000005.10:g.169011951_169011960dup, NC_000005.10:g.169011949_169011960dup, NC_000005.10:g.169011960_169011961insTTTTTTTTTTTTTTTTT, NC_000005.9:g.168438963_168438965del, NC_000005.9:g.168438964_168438965del, NC_000005.9:g.168438965del, NC_000005.9:g.168438965dup, NC_000005.9:g.168438964_168438965dup, NC_000005.9:g.168438963_168438965dup, NC_000005.9:g.168438956_168438965dup, NC_000005.9:g.168438954_168438965dup, NC_000005.9:g.168438965_168438966insTTTTTTTTTTTTTTTTT, NG_033081.1:g.294180_294182del, NG_033081.1:g.294181_294182del, NG_033081.1:g.294182del, NG_033081.1:g.294182dup, NG_033081.1:g.294181_294182dup, NG_033081.1:g.294180_294182dup, NG_033081.1:g.294173_294182dup, NG_033081.1:g.294171_294182dup, NG_033081.1:g.294182_294183insAAAAAAAAAAAAAAAAA
                8.

                rs1491571532 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CCT,CCTTCCT,CCTTCCTTCCTTCCTTCCTTCCT,CTTTCT,CTTTCTTCTTTCT [Show Flanks]
                  Chromosome:
                  5:168755410 (GRCh38)
                  5:168182416 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:168755410:T:TCCT,NC_000005.10:168755410:T:TCCTTCCT,NC_000005.10:168755410:T:TCCTTCCTTCCTTCCTTCCTTCCT,NC_000005.10:168755410:T:TCTTTCT,NC_000005.10:168755410:T:TCTTTCTTCTTTCT
                  Gene:
                  SLIT3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TCCTTCCT=0./0 (ALFA)
                  TCCTTCC=0.000004/1 (TOPMED)
                  TCCTTCCTTCCTTCCTTCCTTCC=0.000044/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491566117 has merged into rs1177389865 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    5:169153980 (GRCh38)
                    5:168580984 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:169153971:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    SLIT3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTT=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000005.10:g.169153980_169153988del, NC_000005.10:g.169153982_169153988del, NC_000005.10:g.169153985_169153988del, NC_000005.10:g.169153986_169153988del, NC_000005.10:g.169153987_169153988del, NC_000005.10:g.169153988del, NC_000005.10:g.169153988dup, NC_000005.10:g.169153987_169153988dup, NC_000005.10:g.169153986_169153988dup, NC_000005.10:g.169153985_169153988dup, NC_000005.10:g.169153984_169153988dup, NC_000005.9:g.168580984_168580992del, NC_000005.9:g.168580986_168580992del, NC_000005.9:g.168580989_168580992del, NC_000005.9:g.168580990_168580992del, NC_000005.9:g.168580991_168580992del, NC_000005.9:g.168580992del, NC_000005.9:g.168580992dup, NC_000005.9:g.168580991_168580992dup, NC_000005.9:g.168580990_168580992dup, NC_000005.9:g.168580989_168580992dup, NC_000005.9:g.168580988_168580992dup, NG_033081.1:g.152150_152158del, NG_033081.1:g.152152_152158del, NG_033081.1:g.152155_152158del, NG_033081.1:g.152156_152158del, NG_033081.1:g.152157_152158del, NG_033081.1:g.152158del, NG_033081.1:g.152158dup, NG_033081.1:g.152157_152158dup, NG_033081.1:g.152156_152158dup, NG_033081.1:g.152155_152158dup, NG_033081.1:g.152154_152158dup
                    10.

                    rs1491564399 has merged into rs1166833231 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TT>-,T,TTT,TTTCTTTT,TTTT [Show Flanks]
                      Chromosome:
                      5:168755431 (GRCh38)
                      5:168182436 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:168755429:TTT:T,NC_000005.10:168755429:TTT:TT,NC_000005.10:168755429:TTT:TTTT,NC_000005.10:168755429:TTT:TTTTCTTTT,NC_000005.10:168755429:TTT:TTTTT
                      Gene:
                      SLIT3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      -=0.00043/7 (TOMMO)
                      HGVS:
                      11.

                      rs1491554781 has merged into rs3061744 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        5:168741488 (GRCh38)
                        5:168168493 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:168741478:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        SLIT3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAA=0./0 (ALFA)
                        -=0.4966/2487 (1000Genomes)
                        HGVS:
                        NC_000005.10:g.168741488_168741496del, NC_000005.10:g.168741489_168741496del, NC_000005.10:g.168741490_168741496del, NC_000005.10:g.168741491_168741496del, NC_000005.10:g.168741492_168741496del, NC_000005.10:g.168741493_168741496del, NC_000005.10:g.168741494_168741496del, NC_000005.10:g.168741495_168741496del, NC_000005.10:g.168741496del, NC_000005.10:g.168741496dup, NC_000005.10:g.168741495_168741496dup, NC_000005.10:g.168741494_168741496dup, NC_000005.10:g.168741493_168741496dup, NC_000005.10:g.168741492_168741496dup, NC_000005.10:g.168741491_168741496dup, NC_000005.10:g.168741490_168741496dup, NC_000005.10:g.168741489_168741496dup, NC_000005.10:g.168741488_168741496dup, NC_000005.10:g.168741487_168741496dup, NC_000005.10:g.168741486_168741496dup, NC_000005.10:g.168741485_168741496dup, NC_000005.10:g.168741483_168741496dup, NC_000005.10:g.168741482_168741496dup, NC_000005.10:g.168741481_168741496dup, NC_000005.10:g.168741480_168741496dup, NC_000005.10:g.168741479_168741496dup, NC_000005.10:g.168741496_168741497insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.168168493_168168501del, NC_000005.9:g.168168494_168168501del, NC_000005.9:g.168168495_168168501del, NC_000005.9:g.168168496_168168501del, NC_000005.9:g.168168497_168168501del, NC_000005.9:g.168168498_168168501del, NC_000005.9:g.168168499_168168501del, NC_000005.9:g.168168500_168168501del, NC_000005.9:g.168168501del, NC_000005.9:g.168168501dup, NC_000005.9:g.168168500_168168501dup, NC_000005.9:g.168168499_168168501dup, NC_000005.9:g.168168498_168168501dup, NC_000005.9:g.168168497_168168501dup, NC_000005.9:g.168168496_168168501dup, NC_000005.9:g.168168495_168168501dup, NC_000005.9:g.168168494_168168501dup, NC_000005.9:g.168168493_168168501dup, NC_000005.9:g.168168492_168168501dup, NC_000005.9:g.168168491_168168501dup, NC_000005.9:g.168168490_168168501dup, NC_000005.9:g.168168488_168168501dup, NC_000005.9:g.168168487_168168501dup, NC_000005.9:g.168168486_168168501dup, NC_000005.9:g.168168485_168168501dup, NC_000005.9:g.168168484_168168501dup, NC_000005.9:g.168168501_168168502insAAAAAAAAAAAAAAAAAAAAAAA, NG_033081.1:g.564642_564650del, NG_033081.1:g.564643_564650del, NG_033081.1:g.564644_564650del, NG_033081.1:g.564645_564650del, NG_033081.1:g.564646_564650del, NG_033081.1:g.564647_564650del, NG_033081.1:g.564648_564650del, NG_033081.1:g.564649_564650del, NG_033081.1:g.564650del, NG_033081.1:g.564650dup, NG_033081.1:g.564649_564650dup, NG_033081.1:g.564648_564650dup, NG_033081.1:g.564647_564650dup, NG_033081.1:g.564646_564650dup, NG_033081.1:g.564645_564650dup, NG_033081.1:g.564644_564650dup, NG_033081.1:g.564643_564650dup, NG_033081.1:g.564642_564650dup, NG_033081.1:g.564641_564650dup, NG_033081.1:g.564640_564650dup, NG_033081.1:g.564639_564650dup, NG_033081.1:g.564637_564650dup, NG_033081.1:g.564636_564650dup, NG_033081.1:g.564635_564650dup, NG_033081.1:g.564634_564650dup, NG_033081.1:g.564633_564650dup, NG_033081.1:g.564650_564651insTTTTTTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491554208 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->CA
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1491552266 has merged into rs938131007 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>-,ATAT [Show Flanks]
                            Chromosome:
                            5:169198978 (GRCh38)
                            5:168625982 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:169198975:ATAT:AT,NC_000005.10:169198975:ATAT:ATATAT
                            Gene:
                            SLIT3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATAT=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491550104 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AT>- [Show Flanks]
                              Chromosome:
                              5:169179688 (GRCh38)
                              5:168606692 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:169179685:ATAT:AT
                              Gene:
                              SLIT3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              ATAT=0./0 (ALFA)
                              -=0.000015/2 (GnomAD)
                              HGVS:
                              15.

                              rs1491549883 has merged into rs1449155178 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GG>-,G [Show Flanks]
                                Chromosome:
                                5:168746297 (GRCh38)
                                5:168173302 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:168746295:GGG:G,NC_000005.10:168746295:GGG:GG
                                Gene:
                                SLIT3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GGG=0./0 (ALFA)
                                -=0.00082/23 (TOMMO)
                                HGVS:
                                16.

                                rs1491545695 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  5:168798223 (GRCh38)
                                  5:168225228 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:168798221:TCT:T
                                  Gene:
                                  SLIT3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00017/2 (ALFA)
                                  -=0.00063/27 (GnomAD)
                                  -=0.27643/1025 (TWINSUK)
                                  -=0.30592/1179 (ALSPAC)
                                  HGVS:
                                  17.

                                  rs1491545361 has merged into rs1256143849 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CT>-,CTCT,CTCTCTCT [Show Flanks]
                                    Chromosome:
                                    5:168755421 (GRCh38)
                                    5:168182426 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:168755419:TCT:T,NC_000005.10:168755419:TCT:TCTCT,NC_000005.10:168755419:TCT:TCTCTCTCT
                                    Gene:
                                    SLIT3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TCTCT=0./0 (ALFA)
                                    -=0.00026/4 (TOMMO)
                                    -=0.00057/1 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1491542910 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->C,CTTCC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC [Show Flanks]
                                      Chromosome:
                                      5:168755396 (GRCh38)
                                      5:168182402 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:168755396:C:CC,NC_000005.10:168755396:C:CCTTCC,NC_000005.10:168755396:C:CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC
                                      Gene:
                                      SLIT3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCTTCC=0./0 (ALFA)
                                      CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC=0.00007/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491542802 has merged into rs1179338839 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CT>-,CTCT [Show Flanks]
                                        Chromosome:
                                        5:168755437 (GRCh38)
                                        5:168182442 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:168755435:TCT:T,NC_000005.10:168755435:TCT:TCTCT
                                        Gene:
                                        SLIT3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCTCT=0./0 (ALFA)
                                        -=0.00002/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491539179 has merged into rs11323030 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
                                          Chromosome:
                                          5:168793808 (GRCh38)
                                          5:168220813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:168793800:GGGGGGGGGG:GGGGGGG,NC_000005.10:168793800:GGGGGGGGGG:GGGGGGGG,NC_000005.10:168793800:GGGGGGGGGG:GGGGGGGGG,NC_000005.10:168793800:GGGGGGGGGG:GGGGGGGGGGG,NC_000005.10:168793800:GGGGGGGGGG:GGGGGGGGGGGG,NC_000005.10:168793800:GGGGGGGGGG:GGGGGGGGGGGGG
                                          Gene:
                                          SLIT3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGGGGGGGGGG=0./0 (ALFA)
                                          -=0.0013/5 (ALSPAC)
                                          G=0.1/4 (GENOME_DK)
                                          G=0.11/66 (NorthernSweden)
                                          G=0.1347/603 (Estonian)
                                          -=0.3107/376 (1000Genomes)
                                          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...