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Items: 1 to 20 of 1012

1.

rs1489954649 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:80320809 (GRCh38)
    5:79616628 (GRCh37)
    Canonical SPDI:
    NC_000005.10:80320808:C:T
    Gene:
    SPZ1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    T=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1489884632 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      5:80318904 (GRCh38)
      5:79614723 (GRCh37)
      Canonical SPDI:
      NC_000005.10:80318903:A:G
      Gene:
      SPZ1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489869869 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        5:80321890 (GRCh38)
        5:79617709 (GRCh37)
        Canonical SPDI:
        NC_000005.10:80321889:G:A,NC_000005.10:80321889:G:C
        Gene:
        SPZ1 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000079/21 (TOPMED)
        HGVS:
        4.

        rs1488782832 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          5:80321262 (GRCh38)
          5:79617081 (GRCh37)
          Canonical SPDI:
          NC_000005.10:80321261:G:T
          Gene:
          SPZ1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1486895903 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:80320836 (GRCh38)
            5:79616655 (GRCh37)
            Canonical SPDI:
            NC_000005.10:80320835:A:G
            Gene:
            SPZ1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1485262104 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              5:80321397 (GRCh38)
              5:79617216 (GRCh37)
              Canonical SPDI:
              NC_000005.10:80321396:T:G
              Gene:
              SPZ1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              ...more
              HGVS:
              7.

              rs1485197416 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                5:80318627 (GRCh38)
                5:79614446 (GRCh37)
                Canonical SPDI:
                NC_000005.10:80318626:G:
                Gene:
                SPZ1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.000071/1 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1483903291 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:80321176 (GRCh38)
                  5:79616995 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:80321175:G:A
                  Gene:
                  SPZ1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1483717023 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    5:80318812 (GRCh38)
                    5:79614631 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:80318811:A:G
                    Gene:
                    SPZ1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1481933490 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CAT [Show Flanks]
                      Chromosome:
                      5:80321575 (GRCh38)
                      5:79617395 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:80321575:TCAT:TCATCAT
                      Gene:
                      SPZ1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TCATCAT=0./0 (ALFA)
                      TCA=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1481690667 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        5:80318928 (GRCh38)
                        5:79614747 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:80318927:G:A,NC_000005.10:80318927:G:T
                        Gene:
                        SPZ1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000014/2 (GnomAD)
                        A=0.000342/1 (KOREAN)
                        A=0.000546/1 (Korea1K)
                        ...more
                        HGVS:
                        12.

                        rs1480351821 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:80321568 (GRCh38)
                          5:79617387 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:80321567:C:T
                          Gene:
                          SPZ1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000023/6 (TOPMED)
                          ...more
                          HGVS:
                          13.

                          rs1479732591 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            5:80321618 (GRCh38)
                            5:79617437 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:80321617:C:G
                            Gene:
                            SPZ1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000142/2 (ALFA)
                            G=0.000021/3 (GnomAD)
                            G=0.000098/26 (TOPMED)
                            ...more
                            HGVS:
                            14.

                            rs1479542267 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              5:80319187 (GRCh38)
                              5:79615006 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:80319186:C:T
                              Gene:
                              SPZ1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              ...more
                              HGVS:
                              15.

                              rs1479475088 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:80318548 (GRCh38)
                                5:79614367 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:80318547:A:G
                                Gene:
                                SPZ1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1479244483 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  5:80321900 (GRCh38)
                                  5:79617719 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:80321899:A:C,NC_000005.10:80321899:A:G
                                  Gene:
                                  SPZ1 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  G=0.000019/5 (TOPMED)
                                  ...more
                                  HGVS:
                                  17.

                                  rs1478259597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    5:80319299 (GRCh38)
                                    5:79615118 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:80319298:A:G,NC_000005.10:80319298:A:T
                                    Gene:
                                    SPZ1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    T=0.000035/1 (TOMMO)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1476429275 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      5:80322146 (GRCh38)
                                      5:79617965 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:80322145:G:C
                                      Gene:
                                      SPZ1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1475948308 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        5:80320929 (GRCh38)
                                        5:79616748 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:80320928:A:C,NC_000005.10:80320928:A:G
                                        Gene:
                                        SPZ1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.00004/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1475627951 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:80321549 (GRCh38)
                                          5:79617368 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:80321548:C:T
                                          Gene:
                                          SPZ1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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