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Links from Gene

Items: 1 to 20 of 7240

1.

rs1491330611 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    11:125088594 (GRCh38)
    11:124958490 (GRCh37)
    Canonical SPDI:
    NC_000011.10:125088592:TAT:T
    Gene:
    SLC37A2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    HGVS:
    2.

    rs1490995880 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:125069068 (GRCh38)
      11:124938964 (GRCh37)
      Canonical SPDI:
      NC_000011.10:125069067:G:A
      Gene:
      SLC37A2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      A=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490949193 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        11:125085341 (GRCh38)
        11:124955237 (GRCh37)
        Canonical SPDI:
        NC_000011.10:125085340:T:G
        Gene:
        SLC37A2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490833468 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:125090656 (GRCh38)
          11:124960552 (GRCh37)
          Canonical SPDI:
          NC_000011.10:125090655:T:C
          Gene:
          SLC37A2 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490810210 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:125077035 (GRCh38)
            11:124946931 (GRCh37)
            Canonical SPDI:
            NC_000011.10:125077034:C:G
            Gene:
            SLC37A2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490764587 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:125066496 (GRCh38)
              11:124936392 (GRCh37)
              Canonical SPDI:
              NC_000011.10:125066495:T:C
              Gene:
              SLC37A2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490753772 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                11:125061879 (GRCh38)
                11:124931775 (GRCh37)
                Canonical SPDI:
                NC_000011.10:125061878:C:G
                Gene:
                SLC37A2 (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:
                8.

                rs1490702951 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:125076165 (GRCh38)
                  11:124946061 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:125076164:T:C
                  Gene:
                  SLC37A2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490671196 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    11:125067946 (GRCh38)
                    11:124937842 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:125067945:A:C
                    Gene:
                    SLC37A2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490589085 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:125062380 (GRCh38)
                      11:124932276 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:125062379:T:C
                      Gene:
                      SLC37A2 (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=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1490532831 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:125061224 (GRCh38)
                        11:124931120 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:125061223:A:G
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1490354621 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:125085299 (GRCh38)
                          11:124955195 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:125085298:C:G
                          Gene:
                          SLC37A2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489982089 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            11:125086750 (GRCh38)
                            11:124956646 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:125086749:G:C
                            Gene:
                            SLC37A2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489925134 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:125080884 (GRCh38)
                              11:124950780 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:125080883:A:G
                              Gene:
                              SLC37A2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1489899897 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:125078661 (GRCh38)
                                11:124948557 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:125078660:A:G
                                Gene:
                                SLC37A2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489777438 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  C>T
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1489751301 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    11:125062828 (GRCh38)
                                    11:124932724 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:125062827:C:A,NC_000011.10:125062827:C:G,NC_000011.10:125062827:C:T
                                    Gene:
                                    SLC37A2 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.00016/1 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs1489668959 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      11:125087545 (GRCh38)
                                      11:124957441 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:125087544:G:
                                      Gene:
                                      SLC37A2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0.0002/1 (ALFA)
                                      -=0.0002/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1489484431 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        11:125079348 (GRCh38)
                                        11:124949244 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:125079347:T:A
                                        Gene:
                                        SLC37A2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489431923 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:125061397 (GRCh38)
                                          11:124931293 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:125061396:C:T
                                          Gene:
                                          SLC37A2 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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