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Links from Gene

Items: 1 to 20 of 933

1.

rs1490851519 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:44852728 (GRCh38)
    15:45144926 (GRCh37)
    Canonical SPDI:
    NC_000015.10:44852727:T:C
    Gene:
    SORD2P (Varview), LOC105370798 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.00006/1 (TOMMO)
    HGVS:
    2.

    rs1490183325 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:44852623 (GRCh38)
      15:45144821 (GRCh37)
      Canonical SPDI:
      NC_000015.10:44852622:G:A
      Gene:
      SORD2P (Varview), LOC105370798 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489329042 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        15:44854941 (GRCh38)
        15:45147139 (GRCh37)
        Canonical SPDI:
        NC_000015.10:44854940:G:C
        Gene:
        SORD2P (Varview), LOC105370798 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000008/1 (GnomAD)
        HGVS:
        4.

        rs1489280328 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:44853568 (GRCh38)
          15:45145766 (GRCh37)
          Canonical SPDI:
          NC_000015.10:44853567:G:A
          Gene:
          SORD2P (Varview), LOC105370798 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000084/1 (ALFA)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489229213 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            15:44857244 (GRCh38)
            15:45149442 (GRCh37)
            Canonical SPDI:
            NC_000015.10:44857243:AT:
            Gene:
            SORD2P (Varview), LOC105370798 (Varview)
            Functional Consequence:
            intron_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency
            MAF:
            -=0.00159/44 (TOMMO)
            HGVS:
            6.

            rs1488641039 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:44853511 (GRCh38)
              15:45145709 (GRCh37)
              Canonical SPDI:
              NC_000015.10:44853510:G:A
              Gene:
              SORD2P (Varview), LOC105370798 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,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:
              7.

              rs1487695988 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                15:44854051 (GRCh38)
                15:45146250 (GRCh37)
                Canonical SPDI:
                NC_000015.10:44854051::A
                Gene:
                SORD2P (Varview), LOC105370798 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000081/11 (GnomAD)
                A=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1487271959 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:44854002 (GRCh38)
                  15:45146200 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:44854001:T:C
                  Gene:
                  SORD2P (Varview), LOC105370798 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1486391452 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:44855271 (GRCh38)
                    15:45147469 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:44855270:T:C
                    Gene:
                    SORD2P (Varview), LOC105370798 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485983670 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      15:44853787 (GRCh38)
                      15:45145985 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:44853786:T:G
                      Gene:
                      SORD2P (Varview), LOC105370798 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485803536 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:44855805 (GRCh38)
                        15:45148003 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:44855804:G:A
                        Gene:
                        SORD2P (Varview), LOC105370798 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485708218 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:44856468 (GRCh38)
                          15:45148666 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:44856467:G:T
                          Gene:
                          SORD2P (Varview), LOC105370798 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1485702847 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:44854591 (GRCh38)
                            15:45146789 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:44854590:T:C
                            Gene:
                            SORD2P (Varview), LOC105370798 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485177857 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              15:44856249 (GRCh38)
                              15:45148447 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:44856248:C:T
                              Gene:
                              SORD2P (Varview), LOC105370798 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484892346 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:44853448 (GRCh38)
                                15:45145646 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:44853447:G:C
                                Gene:
                                SORD2P (Varview), LOC105370798 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484446974 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  15:44856469 (GRCh38)
                                  15:45148667 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:44856468:C:G
                                  Gene:
                                  SORD2P (Varview), LOC105370798 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484194928 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:44854090 (GRCh38)
                                    15:45146288 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:44854089:C:T
                                    Gene:
                                    SORD2P (Varview), LOC105370798 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483565959 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:44855140 (GRCh38)
                                      15:45147338 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:44855139:A:G
                                      Gene:
                                      SORD2P (Varview), LOC105370798 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00101/12 (ALFA)
                                      G=0.00078/5 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1481623080 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:44856313 (GRCh38)
                                        15:45148511 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:44856312:C:T
                                        Gene:
                                        SORD2P (Varview), LOC105370798 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000045/6 (GnomAD)
                                        T=0.001093/7 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1480103468 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:44853577 (GRCh38)
                                          15:45145775 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:44853576:T:C
                                          Gene:
                                          SORD2P (Varview), LOC105370798 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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