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Links from Gene

Items: 1 to 20 of 1935

1.

rs1490627025 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:31115826 (GRCh38)
    6:31083603 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31115825:C:T
    Gene:
    CDSN (Varview), PSORS1C1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000015/4 (TOPMED)
    T=0.000684/2 (KOREAN)
    HGVS:
    2.

    rs1490128815 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:31116620 (GRCh38)
      6:31084397 (GRCh37)
      Canonical SPDI:
      NC_000006.12:31116619:C:T
      Gene:
      CDSN (Varview), PSORS1C1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.
      4.

      rs1489449437 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        6:31114847 (GRCh38)
        6:31082624 (GRCh37)
        Canonical SPDI:
        NC_000006.12:31114846:A:C
        Gene:
        CDSN (Varview), PSORS1C1 (Varview)
        Functional Consequence:
        downstream_transcript_variant,5_prime_UTR_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        5.

        rs1489236859 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          6:31121702 (GRCh38)
          6:31089479 (GRCh37)
          Canonical SPDI:
          NC_000006.12:31121701:A:C
          Gene:
          CDSN (Varview), PSORS1C1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          C=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1489159465 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:31118945 (GRCh38)
            6:31086722 (GRCh37)
            Canonical SPDI:
            NC_000006.12:31118944:C:T
            Gene:
            CDSN (Varview), PSORS1C1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            8.

            rs1488682383 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              6:31120714 (GRCh38)
              6:31088491 (GRCh37)
              Canonical SPDI:
              NC_000006.12:31120713:G:T
              Gene:
              CDSN (Varview), PSORS1C1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              9.

              rs1488163954 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                6:31121660 (GRCh38)
                6:31089437 (GRCh37)
                Canonical SPDI:
                NC_000006.12:31121659:T:G
                Gene:
                CDSN (Varview), PSORS1C1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                10.

                rs1488111373 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  6:31122036 (GRCh38)
                  6:31089813 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:31122035:G:C
                  Gene:
                  CDSN (Varview), PSORS1C1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  11.

                  rs1488052426 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:31116281 (GRCh38)
                    6:31084058 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:31116280:A:G
                    Gene:
                    CDSN (Varview), PSORS1C1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    12.

                    rs1487508273 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      6:31116654 (GRCh38)
                      6:31084431 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:31116653:C:A
                      Gene:
                      CDSN (Varview), PSORS1C1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      13.

                      rs1486574047 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        6:31118864 (GRCh38)
                        6:31086641 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:31118863:G:T
                        Gene:
                        CDSN (Varview), PSORS1C1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.00196/32 (TOMMO)
                        HGVS:
                        14.

                        rs1486247311 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:31119167 (GRCh38)
                          6:31086944 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:31119166:A:G
                          Gene:
                          CDSN (Varview), PSORS1C1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          15.

                          rs1485475167 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:31120280 (GRCh38)
                            6:31088057 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:31120279:C:T
                            Gene:
                            CDSN (Varview), PSORS1C1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            18.

                            rs1483959869 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:31118356 (GRCh38)
                              6:31086133 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:31118355:C:T
                              Gene:
                              CDSN (Varview), PSORS1C1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              19.

                              rs1482686728 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:31117257 (GRCh38)
                                6:31085034 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:31117256:C:T
                                Gene:
                                CDSN (Varview), PSORS1C1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000043/6 (GnomAD)
                                T=0.000113/30 (TOPMED)
                                HGVS:
                                20.

                                rs1482148247 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  6:31118493 (GRCh38)
                                  6:31086270 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:31118492:T:A
                                  Gene:
                                  CDSN (Varview), PSORS1C1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

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