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Items: 1 to 20 of 6302

1.

rs1491585112 has merged into rs5874408 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:13279040 (GRCh38)
    6:13279272 (GRCh37)
    Canonical SPDI:
    NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
    Functional Consequence:
    downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    T=0.4663/2335 (1000Genomes)
    HGVS:
    2.

    rs1491543156 has merged into rs10611107 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATATA>-,TA,TATA,TATATAGAGAGAGAGAGAGATACACGTATATATATATATATATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
      Chromosome:
      6:13284591 (GRCh38)
      6:13284823 (GRCh37)
      Canonical SPDI:
      NC_000006.12:13284578:TATATATATATATATATA:TATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATAGAGAGAGAGAGAGATACACGTATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATATA,NC_000006.12:13284578:TATATATATATATATATA:TATATATATATATATATATATATATA
      Gene:
      PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATATA=0./0 (ALFA)
      TA=0.02737/41 (1000Genomes)
      -=0.25/10 (GENOME_DK)
      HGVS:
      3.

      rs1491424307 has merged into rs35677701 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
        Chromosome:
        6:13290732 (GRCh38)
        6:13290964 (GRCh37)
        Canonical SPDI:
        NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13290724:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
        Gene:
        LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.036667/22 (NorthernSweden)
        -=0.153155/767 (1000Genomes)
        -=0.175/7 (GENOME_DK)
        HGVS:
        4.

        rs1491405120 has merged into rs58847683 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          6:13284532 (GRCh38)
          6:13284764 (GRCh37)
          Canonical SPDI:
          NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.4269/2138 (1000Genomes)
          HGVS:
          NC_000006.12:g.13284532_13284544del, NC_000006.12:g.13284533_13284544del, NC_000006.12:g.13284534_13284544del, NC_000006.12:g.13284535_13284544del, NC_000006.12:g.13284536_13284544del, NC_000006.12:g.13284537_13284544del, NC_000006.12:g.13284538_13284544del, NC_000006.12:g.13284539_13284544del, NC_000006.12:g.13284540_13284544del, NC_000006.12:g.13284541_13284544del, NC_000006.12:g.13284542_13284544del, NC_000006.12:g.13284543_13284544del, NC_000006.12:g.13284544del, NC_000006.12:g.13284544dup, NC_000006.12:g.13284543_13284544dup, NC_000006.12:g.13284542_13284544dup, NC_000006.12:g.13284541_13284544dup, NC_000006.12:g.13284540_13284544dup, NC_000006.12:g.13284539_13284544dup, NC_000006.12:g.13284538_13284544dup, NC_000006.12:g.13284537_13284544dup, NC_000006.12:g.13284536_13284544dup, NC_000006.12:g.13284535_13284544dup, NC_000006.12:g.13284534_13284544dup, NC_000006.12:g.13284532_13284544dup, NC_000006.12:g.13284526_13284544dup, NC_000006.12:g.13284524_13284544dup, NC_000006.11:g.13284764_13284776del, NC_000006.11:g.13284765_13284776del, NC_000006.11:g.13284766_13284776del, NC_000006.11:g.13284767_13284776del, NC_000006.11:g.13284768_13284776del, NC_000006.11:g.13284769_13284776del, NC_000006.11:g.13284770_13284776del, NC_000006.11:g.13284771_13284776del, NC_000006.11:g.13284772_13284776del, NC_000006.11:g.13284773_13284776del, NC_000006.11:g.13284774_13284776del, NC_000006.11:g.13284775_13284776del, NC_000006.11:g.13284776del, NC_000006.11:g.13284776dup, NC_000006.11:g.13284775_13284776dup, NC_000006.11:g.13284774_13284776dup, NC_000006.11:g.13284773_13284776dup, NC_000006.11:g.13284772_13284776dup, NC_000006.11:g.13284771_13284776dup, NC_000006.11:g.13284770_13284776dup, NC_000006.11:g.13284769_13284776dup, NC_000006.11:g.13284768_13284776dup, NC_000006.11:g.13284767_13284776dup, NC_000006.11:g.13284766_13284776dup, NC_000006.11:g.13284764_13284776dup, NC_000006.11:g.13284758_13284776dup, NC_000006.11:g.13284756_13284776dup
          5.

          rs1491344241 has merged into rs11372974 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            6:13278974 (GRCh38)
            6:13279206 (GRCh37)
            Canonical SPDI:
            NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
            -=0.4279/2143 (1000Genomes)
            HGVS:
            6.

            rs1491293714 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CT [Show Flanks]
              Chromosome:
              6:13290725 (GRCh38)
              6:13290958 (GRCh37)
              Canonical SPDI:
              NC_000006.12:13290725:T:TCT
              Gene:
              LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCT=0.000142/2 (ALFA)
              TC=0.000018/2 (GnomAD)
              TC=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1491292765 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->AA,AAA,AAAA [Show Flanks]
                Chromosome:
                6:13276122 (GRCh38)
                6:13276355 (GRCh37)
                Canonical SPDI:
                NC_000006.12:13276122::AA,NC_000006.12:13276122::AAA,NC_000006.12:13276122::AAAA
                Gene:
                PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAA=0./0 (ALFA)
                AAAA=0.00002/1 (GnomAD)
                HGVS:
                8.

                rs1491291900 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  6:13284578 (GRCh38)
                  6:13284810 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:13284577:GT:
                  Gene:
                  PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00006/5 (GnomAD)
                  HGVS:
                  9.

                  rs1491178957 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TT>- [Show Flanks]
                    Chromosome:
                    6:13276122 (GRCh38)
                    6:13276354 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:13276121:TT:
                    Gene:
                    PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.0005/2 (ALFA)
                    HGVS:
                    10.

                    rs1491174564 has merged into rs11372974 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      6:13278974 (GRCh38)
                      6:13279206 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:13278962:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.4279/2143 (1000Genomes)
                      HGVS:
                      11.

                      rs1491173195 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        6:13285914 (GRCh38)
                        6:13286147 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:13285914:C:CC
                        Gene:
                        PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CC=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491143012 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          6:13284518 (GRCh38)
                          6:13284751 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:13284518::C
                          Gene:
                          PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.0002/5 (TOMMO)
                          HGVS:
                          13.

                          rs1491138235 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CA [Show Flanks]
                            Chromosome:
                            6:13284579 (GRCh38)
                            6:13284812 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:13284579:A:ACA
                            Gene:
                            PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ACA=0./0 (ALFA)
                            AC=0.00005/3 (GnomAD)
                            HGVS:
                            14.

                            rs1491113290 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              6:13288810 (GRCh38)
                              6:13289043 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:13288810::A
                              Gene:
                              LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.00177/21 (ALFA)
                              A=0.02111/240 (GnomAD)
                              HGVS:
                              15.

                              rs1491099730 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                6:13291985 (GRCh38)
                                6:13292217 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:13291984:CT:
                                Gene:
                                LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.00005/3 (GnomAD)
                                HGVS:
                                16.

                                rs1491053692 has merged into rs5874408 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  6:13279040 (GRCh38)
                                  6:13279272 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:13279031:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTT=0./0 (ALFA)
                                  T=0.4663/2335 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1490908710 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:13293864 (GRCh38)
                                    6:13294096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:13293863:T:C
                                    Gene:
                                    LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,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:
                                    18.

                                    rs1490824395 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:13276088 (GRCh38)
                                      6:13276320 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:13276087:A:G
                                      Gene:
                                      PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490786035 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TG>- [Show Flanks]
                                        Chromosome:
                                        6:13289392 (GRCh38)
                                        6:13289624 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:13289391:TG:
                                        Gene:
                                        LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490760868 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TG>- [Show Flanks]
                                          Chromosome:
                                          6:13272826 (GRCh38)
                                          6:13273058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:13272825:TG:
                                          Gene:
                                          PHACTR1 (Varview), LOC100130357 (Varview), TBC1D7-LOC100130357 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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