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1.

rs1491520110 has merged into rs10582500 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:203066 (GRCh38)
    12:312232 (GRCh37)
    Canonical SPDI:
    NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SLC6A12 (Varview), SLC6A12-AS1 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTT=0./0 (ALFA)
    HGVS:
    NC_000012.12:g.203066_203084del, NC_000012.12:g.203068_203084del, NC_000012.12:g.203070_203084del, NC_000012.12:g.203071_203084del, NC_000012.12:g.203072_203084del, NC_000012.12:g.203073_203084del, NC_000012.12:g.203074_203084del, NC_000012.12:g.203076_203084del, NC_000012.12:g.203077_203084del, NC_000012.12:g.203078_203084del, NC_000012.12:g.203079_203084del, NC_000012.12:g.203080_203084del, NC_000012.12:g.203081_203084del, NC_000012.12:g.203082_203084del, NC_000012.12:g.203083_203084del, NC_000012.12:g.203084del, NC_000012.12:g.203084dup, NC_000012.12:g.203083_203084dup, NC_000012.12:g.203082_203084dup, NC_000012.12:g.203081_203084dup, NC_000012.12:g.203080_203084dup, NC_000012.12:g.203079_203084dup, NC_000012.12:g.203078_203084dup, NC_000012.12:g.203077_203084dup, NC_000012.12:g.203076_203084dup, NC_000012.12:g.203075_203084dup, NC_000012.12:g.203074_203084dup, NC_000012.12:g.203073_203084dup, NC_000012.12:g.203072_203084dup, NC_000012.12:g.203071_203084dup, NC_000012.12:g.203070_203084dup, NC_000012.12:g.203069_203084dup, NC_000012.12:g.203068_203084dup, NC_000012.12:g.203067_203084dup, NC_000012.12:g.203066_203084dup, NC_000012.12:g.203064_203084dup, NC_000012.12:g.203062_203084dup, NC_000012.12:g.203061_203084dup, NC_000012.12:g.203060_203084dup, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312232_312250del, NC_000012.11:g.312234_312250del, NC_000012.11:g.312236_312250del, NC_000012.11:g.312237_312250del, NC_000012.11:g.312238_312250del, NC_000012.11:g.312239_312250del, NC_000012.11:g.312240_312250del, NC_000012.11:g.312242_312250del, NC_000012.11:g.312243_312250del, NC_000012.11:g.312244_312250del, NC_000012.11:g.312245_312250del, NC_000012.11:g.312246_312250del, NC_000012.11:g.312247_312250del, NC_000012.11:g.312248_312250del, NC_000012.11:g.312249_312250del, NC_000012.11:g.312250del, NC_000012.11:g.312250dup, NC_000012.11:g.312249_312250dup, NC_000012.11:g.312248_312250dup, NC_000012.11:g.312247_312250dup, NC_000012.11:g.312246_312250dup, NC_000012.11:g.312245_312250dup, NC_000012.11:g.312244_312250dup, NC_000012.11:g.312243_312250dup, NC_000012.11:g.312242_312250dup, NC_000012.11:g.312241_312250dup, NC_000012.11:g.312240_312250dup, NC_000012.11:g.312239_312250dup, NC_000012.11:g.312238_312250dup, NC_000012.11:g.312237_312250dup, NC_000012.11:g.312236_312250dup, NC_000012.11:g.312235_312250dup, NC_000012.11:g.312234_312250dup, NC_000012.11:g.312233_312250dup, NC_000012.11:g.312232_312250dup, NC_000012.11:g.312230_312250dup, NC_000012.11:g.312228_312250dup, NC_000012.11:g.312227_312250dup, NC_000012.11:g.312226_312250dup, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491445901 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1490505887 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        12:203037 (GRCh38)
        12:312203 (GRCh37)
        Canonical SPDI:
        NC_000012.12:203036:A:G,NC_000012.12:203036:A:T
        Gene:
        SLC6A12 (Varview), SLC6A12-AS1 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00119/14 (ALFA)
        G=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1490111728 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:201729 (GRCh38)
          12:310895 (GRCh37)
          Canonical SPDI:
          NC_000012.12:201728:T:C
          Gene:
          SLC6A12 (Varview), SLC6A12-AS1 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (GnomAD_exomes)
          C=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1488993638 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:202994 (GRCh38)
            12:312160 (GRCh37)
            Canonical SPDI:
            NC_000012.12:202993:C:A
            Gene:
            SLC6A12 (Varview), SLC6A12-AS1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488667883 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:203610 (GRCh38)
              12:312776 (GRCh37)
              Canonical SPDI:
              NC_000012.12:203609:C:T
              Gene:
              SLC6A12 (Varview), SLC6A12-AS1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1488271820 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CCGTCCGGC>-,CCGTCCGGCCCGTCCGGC [Show Flanks]
                Chromosome:
                12:203667 (GRCh38)
                12:312833 (GRCh37)
                Canonical SPDI:
                NC_000012.12:203657:CCGTCCGGCCCGTCCGGC:CCGTCCGGC,NC_000012.12:203657:CCGTCCGGCCCGTCCGGC:CCGTCCGGCCCGTCCGGCCCGTCCGGC
                Gene:
                SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCGTCCGGCCCGTCCGGCCCGTCCGGC=0./0 (ALFA)
                HGVS:
                8.

                rs1488004179 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:202033 (GRCh38)
                  12:311199 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:202032:T:C
                  Gene:
                  SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1487829445 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    G>T
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1487478231 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:203169 (GRCh38)
                      12:312335 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:203168:C:T
                      Gene:
                      SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487261307 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        12:205142 (GRCh38)
                        12:314308 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:205141:T:A
                        Gene:
                        SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486506609 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          12:205251 (GRCh38)
                          12:314417 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:205250:C:A,NC_000012.12:205250:C:G
                          Gene:
                          SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1485560007 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            12:203848 (GRCh38)
                            12:313014 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:203847:G:A,NC_000012.12:203847:G:T
                            Gene:
                            SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1484765019 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              12:203938 (GRCh38)
                              12:313104 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:203937:C:A,NC_000012.12:203937:C:T
                              Gene:
                              SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484713519 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CCGAAGTGC>- [Show Flanks]
                                Chromosome:
                                12:203328 (GRCh38)
                                12:312494 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:203326:CCCGAAGTGC:C
                                Gene:
                                SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1484383255 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:203498 (GRCh38)
                                  12:312664 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:203497:C:T
                                  Gene:
                                  SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.00007/1 (ALFA)
                                  T=0.00022/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1483077358 has merged into rs10582500 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    12:203066 (GRCh38)
                                    12:312232 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:203059:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTT=0./0 (ALFA)
                                    HGVS:
                                    NC_000012.12:g.203066_203084del, NC_000012.12:g.203068_203084del, NC_000012.12:g.203070_203084del, NC_000012.12:g.203071_203084del, NC_000012.12:g.203072_203084del, NC_000012.12:g.203073_203084del, NC_000012.12:g.203074_203084del, NC_000012.12:g.203076_203084del, NC_000012.12:g.203077_203084del, NC_000012.12:g.203078_203084del, NC_000012.12:g.203079_203084del, NC_000012.12:g.203080_203084del, NC_000012.12:g.203081_203084del, NC_000012.12:g.203082_203084del, NC_000012.12:g.203083_203084del, NC_000012.12:g.203084del, NC_000012.12:g.203084dup, NC_000012.12:g.203083_203084dup, NC_000012.12:g.203082_203084dup, NC_000012.12:g.203081_203084dup, NC_000012.12:g.203080_203084dup, NC_000012.12:g.203079_203084dup, NC_000012.12:g.203078_203084dup, NC_000012.12:g.203077_203084dup, NC_000012.12:g.203076_203084dup, NC_000012.12:g.203075_203084dup, NC_000012.12:g.203074_203084dup, NC_000012.12:g.203073_203084dup, NC_000012.12:g.203072_203084dup, NC_000012.12:g.203071_203084dup, NC_000012.12:g.203070_203084dup, NC_000012.12:g.203069_203084dup, NC_000012.12:g.203068_203084dup, NC_000012.12:g.203067_203084dup, NC_000012.12:g.203066_203084dup, NC_000012.12:g.203064_203084dup, NC_000012.12:g.203062_203084dup, NC_000012.12:g.203061_203084dup, NC_000012.12:g.203060_203084dup, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.203084_203085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312232_312250del, NC_000012.11:g.312234_312250del, NC_000012.11:g.312236_312250del, NC_000012.11:g.312237_312250del, NC_000012.11:g.312238_312250del, NC_000012.11:g.312239_312250del, NC_000012.11:g.312240_312250del, NC_000012.11:g.312242_312250del, NC_000012.11:g.312243_312250del, NC_000012.11:g.312244_312250del, NC_000012.11:g.312245_312250del, NC_000012.11:g.312246_312250del, NC_000012.11:g.312247_312250del, NC_000012.11:g.312248_312250del, NC_000012.11:g.312249_312250del, NC_000012.11:g.312250del, NC_000012.11:g.312250dup, NC_000012.11:g.312249_312250dup, NC_000012.11:g.312248_312250dup, NC_000012.11:g.312247_312250dup, NC_000012.11:g.312246_312250dup, NC_000012.11:g.312245_312250dup, NC_000012.11:g.312244_312250dup, NC_000012.11:g.312243_312250dup, NC_000012.11:g.312242_312250dup, NC_000012.11:g.312241_312250dup, NC_000012.11:g.312240_312250dup, NC_000012.11:g.312239_312250dup, NC_000012.11:g.312238_312250dup, NC_000012.11:g.312237_312250dup, NC_000012.11:g.312236_312250dup, NC_000012.11:g.312235_312250dup, NC_000012.11:g.312234_312250dup, NC_000012.11:g.312233_312250dup, NC_000012.11:g.312232_312250dup, NC_000012.11:g.312230_312250dup, NC_000012.11:g.312228_312250dup, NC_000012.11:g.312227_312250dup, NC_000012.11:g.312226_312250dup, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.312250_312251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    18.

                                    rs1482480019 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TTTG>- [Show Flanks]
                                      Chromosome:
                                      12:203082 (GRCh38)
                                      12:312248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:203081:TTTG:
                                      Gene:
                                      SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0.00008/1 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482410814 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        12:202646 (GRCh38)
                                        12:311812 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:202645:G:A,NC_000012.12:202645:G:C
                                        Gene:
                                        SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        C=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1481846281 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:204827 (GRCh38)
                                          12:313993 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:204826:C:G
                                          Gene:
                                          SLC6A12 (Varview), SLC6A12-AS1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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