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Items: 1 to 20 of 4035

1.

rs1490921999 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    15:77921971 (GRCh38)
    15:78214313 (GRCh37)
    Canonical SPDI:
    NC_000015.10:77921970:C:A,NC_000015.10:77921970:C:T
    Gene:
    GOLGA6FP (Varview), LOC124903533 (Varview)
    Functional Consequence:
    intron_variant,downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490896678 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      15:77922871 (GRCh38)
      15:78215213 (GRCh37)
      Canonical SPDI:
      NC_000015.10:77922870:GGGG:GGG
      Gene:
      GOLGA6FP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GGG=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490718224 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:77922105 (GRCh38)
        15:78214447 (GRCh37)
        Canonical SPDI:
        NC_000015.10:77922104:G:A
        Gene:
        GOLGA6FP (Varview), LOC124903533 (Varview)
        Functional Consequence:
        intron_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490562092 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:77915168 (GRCh38)
          15:78207510 (GRCh37)
          Canonical SPDI:
          NC_000015.10:77915167:G:A
          Gene:
          GOLGA6FP (Varview), LOC124903533 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490404599 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:77923210 (GRCh38)
            15:78215552 (GRCh37)
            Canonical SPDI:
            NC_000015.10:77923209:G:A
            Gene:
            GOLGA6FP (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490216679 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:77923202 (GRCh38)
              15:78215544 (GRCh37)
              Canonical SPDI:
              NC_000015.10:77923201:C:T
              Gene:
              GOLGA6FP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000078/11 (GnomAD)
              HGVS:
              7.

              rs1489842739 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:77924430 (GRCh38)
                15:78216772 (GRCh37)
                Canonical SPDI:
                NC_000015.10:77924429:T:C
                Gene:
                GOLGA6FP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1489778813 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:77924504 (GRCh38)
                  15:78216846 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:77924503:G:A
                  Gene:
                  GOLGA6FP (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489777001 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    15:77920403 (GRCh38)
                    15:78212745 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:77920402:A:C
                    Gene:
                    GOLGA6FP (Varview), LOC124903533 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489684705 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      15:77920508 (GRCh38)
                      15:78212850 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:77920507:G:C
                      Gene:
                      GOLGA6FP (Varview), LOC124903533 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489658549 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        15:77922341 (GRCh38)
                        15:78214683 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:77922340:G:A
                        Gene:
                        GOLGA6FP (Varview), LOC124903533 (Varview)
                        Functional Consequence:
                        intron_variant,downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000117/31 (TOPMED)
                        A=0.000157/22 (GnomAD)
                        HGVS:
                        12.

                        rs1489460556 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:77917691 (GRCh38)
                          15:78210033 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:77917690:G:A
                          Gene:
                          GOLGA6FP (Varview), LOC124903533 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1489207416 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            15:77914746 (GRCh38)
                            15:78207088 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:77914745:C:G
                            Gene:
                            GOLGA6FP (Varview), LOC124903533 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
                            14.

                            rs1488694631 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:77926518 (GRCh38)
                              15:78218860 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:77926517:G:A
                              Gene:
                              GOLGA6FP (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488691144 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                15:77922519 (GRCh38)
                                15:78214861 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:77922518:A:C
                                Gene:
                                GOLGA6FP (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1488553394 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  15:77918068 (GRCh38)
                                  15:78210410 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:77918067:C:G
                                  Gene:
                                  GOLGA6FP (Varview), LOC124903533 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488439977 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    15:77924931 (GRCh38)
                                    15:78217273 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:77924930:C:G
                                    Gene:
                                    GOLGA6FP (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488316435 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      15:77919641 (GRCh38)
                                      15:78211983 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:77919640:C:G
                                      Gene:
                                      GOLGA6FP (Varview), LOC124903533 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000198/3 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488283448 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        15:77915719 (GRCh38)
                                        15:78208061 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:77915718:C:G
                                        Gene:
                                        GOLGA6FP (Varview), LOC124903533 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488247447 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          15:77915762 (GRCh38)
                                          15:78208104 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:77915761:C:G
                                          Gene:
                                          GOLGA6FP (Varview), LOC124903533 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,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:

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