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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491503786 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TC>- [Show Flanks]
    Chromosome:
    11:6713151 (GRCh38)
    11:6734382 (GRCh37)
    Canonical SPDI:
    NC_000011.10:6713150:TC:
    Gene:
    GVINP1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.005311/63 (ALFA)
    -=0.000495/8 (TOMMO)
    -=0.008539/1066 (GnomAD)
    -=0.047046/86 (Korea1K)
    HGVS:
    2.

    rs1491244208 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      11:6713150 (GRCh38)
      11:6734382 (GRCh37)
      Canonical SPDI:
      NC_000011.10:6713150::C
      Gene:
      GVINP1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000016/2 (GnomAD)
      HGVS:
      3.

      rs1490964513 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:6720979 (GRCh38)
        11:6742210 (GRCh37)
        Canonical SPDI:
        NC_000011.10:6720978:A:G
        Gene:
        GVINP1 (Varview)
        Functional Consequence:
        non_coding_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:
        4.

        rs1490946077 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          11:6716380 (GRCh38)
          11:6737611 (GRCh37)
          Canonical SPDI:
          NC_000011.10:6716379:A:C
          Gene:
          GVINP1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490851261 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:6722026 (GRCh38)
            11:6743257 (GRCh37)
            Canonical SPDI:
            NC_000011.10:6722025:A:G
            Gene:
            GVINP1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490573322 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              11:6713300 (GRCh38)
              11:6734531 (GRCh37)
              Canonical SPDI:
              NC_000011.10:6713299:A:T
              Gene:
              GVINP1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1490147635 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:6721486 (GRCh38)
                11:6742717 (GRCh37)
                Canonical SPDI:
                NC_000011.10:6721485:C:T
                Gene:
                GVINP1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490034286 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  ACTC>- [Show Flanks]
                  Chromosome:
                  11:6722403 (GRCh38)
                  11:6743634 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:6722402:ACTC:
                  Gene:
                  GVINP1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489916858 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:6723101 (GRCh38)
                    11:6744332 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:6723100:C:G
                    Gene:
                    GVINP1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    HGVS:
                    10.

                    rs1489838008 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:6715199 (GRCh38)
                      11:6736430 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:6715198:C:G
                      Gene:
                      GVINP1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1489719238 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:6713689 (GRCh38)
                        11:6734920 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:6713688:G:C
                        Gene:
                        GVINP1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489238763 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          11:6723451 (GRCh38)
                          11:6744682 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:6723450:C:A,NC_000011.10:6723450:C:T
                          Gene:
                          GVINP1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000043/6 (GnomAD)
                          HGVS:
                          13.

                          rs1489090909 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            11:6713639 (GRCh38)
                            11:6734870 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:6713638:A:G,NC_000011.10:6713638:A:T
                            Gene:
                            GVINP1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000008/1 (GnomAD)
                            T=0.006502/19 (KOREAN)
                            HGVS:
                            14.

                            rs1489059286 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              11:6714838 (GRCh38)
                              11:6736069 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:6714837:C:A
                              Gene:
                              GVINP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489041492 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:6715752 (GRCh38)
                                11:6736983 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:6715751:A:G
                                Gene:
                                GVINP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000111/1 (ALFA)
                                G=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1488947190 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  11:6714660 (GRCh38)
                                  11:6735891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:6714659:C:A
                                  Gene:
                                  GVINP1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by cluster
                                  HGVS:
                                  17.

                                  rs1488835213 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:6718429 (GRCh38)
                                    11:6739660 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:6718428:C:T
                                    Gene:
                                    GVINP1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.00003/8 (TOPMED)
                                    T=0.000079/11 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1488030063 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      11:6720340 (GRCh38)
                                      11:6741571 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:6720339:T:G
                                      Gene:
                                      GVINP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487986807 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:6723482 (GRCh38)
                                        11:6744713 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:6723481:T:C
                                        Gene:
                                        GVINP1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487911872 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:6716089 (GRCh38)
                                          11:6737320 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:6716088:C:T
                                          Gene:
                                          GVINP1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000007/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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