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Links from Gene

Items: 1 to 20 of 2018

1.

rs1491490430 has merged into rs143084012 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA,TATATA [Show Flanks]
    Chromosome:
    9:8856552 (GRCh38)
    9:8856552 (GRCh37)
    Canonical SPDI:
    NC_000009.12:8856540:ATATATATATATA:ATATATATATA,NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA,NC_000009.12:8856540:ATATATATATATA:ATATATATATATATATA
    Gene:
    PTPRD (Varview), PTPRD-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATA=0.03003/513 (ALFA)
    AT=0.025/1 (GENOME_DK)
    AT=0.04206/9 (Vietnamese)
    AT=0.05981/300 (1000Genomes)
    AT=0.07924/355 (Estonian)
    AT=0.08447/1416 (TOMMO)
    AT=0.09018/90 (GoNL)
    AT=0.10167/61 (NorthernSweden)
    HGVS:
    2.

    rs1491361782 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      9:8858830 (GRCh38)
      9:8858830 (GRCh37)
      Canonical SPDI:
      NC_000009.12:8858828:ATA:A
      Gene:
      PTPRD (Varview), PTPRD-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.005564/66 (ALFA)
      -=0.000035/1 (TOMMO)
      -=0.034125/4284 (GnomAD)
      -=0.046667/28 (NorthernSweden)
      -=0.06041/224 (TWINSUK)
      -=0.077582/299 (ALSPAC)
      HGVS:
      3.

      rs1491018513 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        9:8858695 (GRCh38)
        9:8858695 (GRCh37)
        Canonical SPDI:
        NC_000009.12:8858694:TG:
        Gene:
        PTPRD (Varview), PTPRD-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        -=0.00023/6 (GnomAD)
        HGVS:
        4.

        rs1490098836 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CTTT>- [Show Flanks]
          Chromosome:
          9:8858539 (GRCh38)
          9:8858539 (GRCh37)
          Canonical SPDI:
          NC_000009.12:8858537:TCTTT:T
          Gene:
          PTPRD (Varview), PTPRD-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.000023/6 (TOPMED)
          -=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1489478479 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            C>T
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1489383416 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:8857931 (GRCh38)
              9:8857931 (GRCh37)
              Canonical SPDI:
              NC_000009.12:8857930:A:C
              Gene:
              PTPRD (Varview), PTPRD-AS1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.00059/7 (ALFA)
              C=0.00359/59 (TOMMO)
              C=0.01482/26 (Korea1K)
              C=0.04413/124 (KOREAN)
              A=0.5/1 (SGDP_PRJ)
              HGVS:
              7.

              rs1488538760 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                9:8857532 (GRCh38)
                9:8857532 (GRCh37)
                Canonical SPDI:
                NC_000009.12:8857531:C:G,NC_000009.12:8857531:C:T
                Gene:
                PTPRD (Varview), PTPRD-AS1 (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:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                T=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1488102698 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  9:8860326 (GRCh38)
                  9:8860326 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:8860325:A:C
                  Gene:
                  PTPRD (Varview), PTPRD-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488102199 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:8857665 (GRCh38)
                    9:8857665 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:8857664:C:T
                    Gene:
                    PTPRD (Varview), PTPRD-AS1 (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)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1487555453 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      9:8857741 (GRCh38)
                      9:8857741 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:8857740:C:A
                      Gene:
                      PTPRD (Varview), PTPRD-AS1 (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:
                      A=0./0 (ALFA)
                      A=0.000042/11 (TOPMED)
                      A=0.000312/2 (1000Genomes)
                      HGVS:
                      11.

                      rs1487503416 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        9:8858117 (GRCh38)
                        9:8858117 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:8858116:T:A,NC_000009.12:8858116:T:G
                        Gene:
                        PTPRD (Varview), PTPRD-AS1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487482294 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:8857882 (GRCh38)
                          9:8857882 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:8857881:G:A
                          Gene:
                          PTPRD (Varview), PTPRD-AS1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,intron_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)
                          HGVS:
                          13.

                          rs1486985445 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            9:8857626 (GRCh38)
                            9:8857626 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:8857625:C:A,NC_000009.12:8857625:C:T
                            Gene:
                            PTPRD (Varview), PTPRD-AS1 (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:
                            14.

                            rs1486619345 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              9:8858613 (GRCh38)
                              9:8858613 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:8858612:G:A,NC_000009.12:8858612:G:C
                              Gene:
                              PTPRD (Varview), PTPRD-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486608707 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                9:8860317 (GRCh38)
                                9:8860317 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:8860316:G:C
                                Gene:
                                PTPRD (Varview), PTPRD-AS1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1486431361 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  9:8860203 (GRCh38)
                                  9:8860203 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:8860202:C:T
                                  Gene:
                                  PTPRD (Varview), PTPRD-AS1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485638642 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    9:8858348 (GRCh38)
                                    9:8858348 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:8858347:G:C
                                    Gene:
                                    PTPRD (Varview), PTPRD-AS1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485626620 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      9:8861274 (GRCh38)
                                      9:8861274 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:8861273:G:C
                                      Gene:
                                      PTPRD (Varview), PTPRD-AS1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485450991 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        9:8860555 (GRCh38)
                                        9:8860555 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:8860554:C:G,NC_000009.12:8860554:C:T
                                        Gene:
                                        PTPRD (Varview), PTPRD-AS1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        T=0.000035/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1485432319 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:8861630 (GRCh38)
                                          9:8861630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:8861629:T:C
                                          Gene:
                                          PTPRD (Varview), PTPRD-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000023/6 (TOPMED)
                                          C=0.000036/5 (GnomAD)
                                          HGVS:

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