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.

rs1491332998 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    2:97730690 (GRCh38)
    2:98347153 (GRCh37)
    Canonical SPDI:
    NC_000002.12:97730688:TGT:T
    Gene:
    ZAP70 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    -=0.000064/9 (GnomAD)
    -=0.000204/54 (TOPMED)
    -=0.000599/3 (1000Genomes)
    HGVS:
    2.

    rs1491025341 has merged into rs534883145 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CC>-,C,CCC [Show Flanks]
      Chromosome:
      2:97740185 (GRCh38)
      2:98356648 (GRCh37)
      Canonical SPDI:
      NC_000002.12:97740179:CCCCCCC:CCCCC,NC_000002.12:97740179:CCCCCCC:CCCCCC,NC_000002.12:97740179:CCCCCCC:CCCCCCCC
      Gene:
      ZAP70 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCCCCC=0./0 (ALFA)
      -=0.001998/10 (1000Genomes)
      -=0.002335/9 (ALSPAC)
      -=0.002427/9 (TWINSUK)
      -=0.002679/12 (Estonian)
      -=0.003006/3 (GoNL)
      -=0.003453/914 (TOPMED)
      HGVS:
      3.

      rs1490917650 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:97731354 (GRCh38)
        2:98347817 (GRCh37)
        Canonical SPDI:
        NC_000002.12:97731353:G:A
        Gene:
        ZAP70 (Varview)
        Functional Consequence:
        upstream_transcript_variant,intron_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:
        4.

        rs1490825996 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:97723287 (GRCh38)
          2:98339750 (GRCh37)
          Canonical SPDI:
          NC_000002.12:97723286:G:A
          Gene:
          ZAP70 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1490616294 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            2:97738833 (GRCh38)
            2:98355296 (GRCh37)
            Canonical SPDI:
            NC_000002.12:97738832:C:A,NC_000002.12:97738832:C:T
            Gene:
            ZAP70 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.
            7.

            rs1490527458 has merged into rs1462513008 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
              Chromosome:
              2:97721795 (GRCh38)
              2:98338258 (GRCh37)
              Canonical SPDI:
              NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:97721785:TTTTTTTTTTTT:TTTTTTTTTTTTTT
              Gene:
              ZAP70 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              8.

              rs1490454613 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                2:97716488 (GRCh38)
                2:98332951 (GRCh37)
                Canonical SPDI:
                NC_000002.12:97716487:G:C
                Gene:
                ZAP70 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                9.

                rs1490447097 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  2:97712929 (GRCh38)
                  2:98329392 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:97712928:C:G,NC_000002.12:97712928:C:T
                  Gene:
                  ZAP70 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  10.

                  rs1490270589 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    2:97714856 (GRCh38)
                    2:98331319 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:97714855:T:G
                    Gene:
                    ZAP70 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    11.

                    rs1490208855 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:97734538 (GRCh38)
                      2:98351001 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:97734537:A:G
                      Gene:
                      ZAP70 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      12.

                      rs1490005551 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:97711778 (GRCh38)
                        2:98328241 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:97711777:C:A,NC_000002.12:97711777:C:T
                        Gene:
                        ZAP70 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000132/2 (ALFA)
                        T=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        A=0.000446/2 (Estonian)
                        HGVS:
                        13.

                        rs1489954304 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TTGGCATTGGGACCAGAGACCCCGCAAGT>- [Show Flanks]
                          Chromosome:
                          2:97713929 (GRCh38)
                          2:98330392 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:97713928:TTGGCATTGGGACCAGAGACCCCGCAAGT:
                          Gene:
                          ZAP70 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          14.

                          rs1489939570 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            2:97730467 (GRCh38)
                            2:98346930 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:97730466:C:G,NC_000002.12:97730466:C:T
                            Gene:
                            ZAP70 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1489903586 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              2:97729232 (GRCh38)
                              2:98345695 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:97729231:G:C
                              Gene:
                              ZAP70 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000072/19 (TOPMED)
                              HGVS:
                              16.

                              rs1489640767 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:97735265 (GRCh38)
                                2:98351728 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:97735264:G:A
                                Gene:
                                ZAP70 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1489624260 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  2:97721580 (GRCh38)
                                  2:98338043 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:97721579:A:
                                  Gene:
                                  ZAP70 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1489559745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    2:97721791 (GRCh38)
                                    2:98338254 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:97721790:T:C,NC_000002.12:97721790:T:G
                                    Gene:
                                    ZAP70 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489445032 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      2:97736880 (GRCh38)
                                      2:98353343 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:97736879:G:A,NC_000002.12:97736879:G:C
                                      Gene:
                                      ZAP70 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0./0 (GnomAD)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1489044915 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:97724856 (GRCh38)
                                        2:98341319 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:97724855:T:C
                                        Gene:
                                        ZAP70 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        Display Settings:

                                        Format
                                        Items per page
                                        Sort by

                                        Send to:

                                        Choose Destination

                                        Supplemental Content

                                        Find related data

                                        Recent activity

                                        Your browsing activity is empty.

                                        Activity recording is turned off.

                                        Turn recording back on

                                        See more...