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Links from Gene

Items: 1 to 20 of 2478

1.

rs1490930291 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:46072730 (GRCh38)
    22:46468610 (GRCh37)
    Canonical SPDI:
    NC_000022.11:46072729:G:A
    Gene:
    LINC02939 (Varview), LOC124905135 (Varview)
    Functional Consequence:
    2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000014/2 (GnomAD)
    A=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1489739797 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:46064711 (GRCh38)
      22:46460591 (GRCh37)
      Canonical SPDI:
      NC_000022.11:46064710:C:T
      Gene:
      LINC02939 (Varview), LOC124905135 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000019/5 (TOPMED)
      T=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1489404059 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        22:46070958 (GRCh38)
        22:46466838 (GRCh37)
        Canonical SPDI:
        NC_000022.11:46070957:T:C
        Gene:
        LINC02939 (Varview), LOC124905135 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1489244366 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          22:46072122 (GRCh38)
          22:46468002 (GRCh37)
          Canonical SPDI:
          NC_000022.11:46072121:T:C
          Gene:
          LINC02939 (Varview), LOC124905135 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000022/3 (GnomAD)
          C=0.000026/7 (TOPMED)
          C=0.000156/1 (1000Genomes)
          C=0.00211/6 (KOREAN)
          C=0.003788/63 (TOMMO)
          HGVS:
          5.

          rs1489233392 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            22:46068115 (GRCh38)
            22:46463995 (GRCh37)
            Canonical SPDI:
            NC_000022.11:46068114:T:C
            Gene:
            LINC02939 (Varview), LOC124905135 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1488822199 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              22:46071835 (GRCh38)
              22:46467715 (GRCh37)
              Canonical SPDI:
              NC_000022.11:46071834:C:A,NC_000022.11:46071834:C:T
              Gene:
              LINC02939 (Varview), LOC124905135 (Varview)
              Functional Consequence:
              intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1488619295 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                22:46070086 (GRCh38)
                22:46465966 (GRCh37)
                Canonical SPDI:
                NC_000022.11:46070085:C:G
                Gene:
                LINC02939 (Varview), LOC124905135 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488453936 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CCACCGTCGGCCCCGAGCGCTG>- [Show Flanks]
                  Chromosome:
                  22:46070805 (GRCh38)
                  22:46466685 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:46070799:CGCTGCCACCGTCGGCCCCGAGCGCTG:CGCTG
                  Gene:
                  LINC02939 (Varview), LOC124905135 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CGCTG=0.000071/1 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488365160 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    22:46070770 (GRCh38)
                    22:46466650 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:46070769:C:A,NC_000022.11:46070769:C:T
                    Gene:
                    LINC02939 (Varview), LOC124905135 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    A=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1488256119 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:46067651 (GRCh38)
                      22:46463531 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:46067650:T:C
                      Gene:
                      LINC02939 (Varview), LOC124905135 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1487924545 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:46068347 (GRCh38)
                        22:46464227 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:46068346:G:A
                        Gene:
                        LINC02939 (Varview), LOC124905135 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487392209 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          22:46073095 (GRCh38)
                          22:46468975 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:46073094:T:
                          Gene:
                          LOC124905135 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1487220425 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:46064249 (GRCh38)
                            22:46460129 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:46064248:C:T
                            Gene:
                            LINC02939 (Varview), LOC124905135 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000019/5 (TOPMED)
                            HGVS:
                            14.

                            rs1487207053 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:46065369 (GRCh38)
                              22:46461249 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:46065368:T:C
                              Gene:
                              LINC02939 (Varview), LOC124905135 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486731840 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                22:46070963 (GRCh38)
                                22:46466843 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:46070962:C:A
                                Gene:
                                LINC02939 (Varview), LOC124905135 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1486706500 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:46067191 (GRCh38)
                                  22:46463071 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:46067190:G:A
                                  Gene:
                                  LINC02939 (Varview), LOC124905135 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486660236 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    22:46070301 (GRCh38)
                                    22:46466181 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:46070300:G:A,NC_000022.11:46070300:G:C
                                    Gene:
                                    LINC02939 (Varview), LOC124905135 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_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)
                                    C=0.002477/70 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486206782 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      22:46064324 (GRCh38)
                                      22:46460204 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:46064323:C:T
                                      Gene:
                                      LINC02939 (Varview), LOC124905135 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1486136724 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        22:46072217 (GRCh38)
                                        22:46468097 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:46072216:G:A,NC_000022.11:46072216:G:C
                                        Gene:
                                        LINC02939 (Varview), LOC124905135 (Varview)
                                        Functional Consequence:
                                        intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486110299 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          22:46071368 (GRCh38)
                                          22:46467248 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:46071367:C:A,NC_000022.11:46071367:C:T
                                          Gene:
                                          LINC02939 (Varview), LOC124905135 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.00011/2 (ALFA)
                                          T=0.00045/2 (Estonian)
                                          HGVS:

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