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Links from Gene

Items: 1 to 20 of 1276

1.

rs1491395914 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TTTAG,TTTTTTTTTTTGG [Show Flanks]
    Chromosome:
    3:155290420 (GRCh38)
    3:155008210 (GRCh37)
    Canonical SPDI:
    NC_000003.12:155290420::TTTAG,NC_000003.12:155290420::TTTTTTTTTTTGG
    Gene:
    STRIT1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by cluster
    MAF:
    TTTAG=0.00006/1 (TOMMO)
    HGVS:
    2.

    rs1491122171 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      3:155290421 (GRCh38)
      3:155008210 (GRCh37)
      Canonical SPDI:
      NC_000003.12:155290419:TGT:T
      Gene:
      STRIT1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490438246 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:155289739 (GRCh38)
        3:155007528 (GRCh37)
        Canonical SPDI:
        NC_000003.12:155289738:T:C
        Gene:
        STRIT1 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490294065 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:155293054 (GRCh38)
          3:155010843 (GRCh37)
          Canonical SPDI:
          NC_000003.12:155293053:A:G
          Gene:
          STRIT1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1490202144 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AGA>- [Show Flanks]
            Chromosome:
            3:155295415 (GRCh38)
            3:155013204 (GRCh37)
            Canonical SPDI:
            NC_000003.12:155295407:AAGAAGAAGA:AAGAAGA
            Gene:
            STRIT1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAGAAGA=0./0 (ALFA)
            -=0.000049/13 (TOPMED)
            -=0.000078/11 (GnomAD)
            HGVS:
            6.

            rs1488321400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              3:155290440 (GRCh38)
              3:155008229 (GRCh37)
              Canonical SPDI:
              NC_000003.12:155290439:C:A
              Gene:
              STRIT1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000061/1 (ALFA)
              A=0.000029/3 (GnomAD)
              A=0.000225/1 (Estonian)
              HGVS:
              7.

              rs1487921728 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                3:155293644 (GRCh38)
                3:155011433 (GRCh37)
                Canonical SPDI:
                NC_000003.12:155293643:G:A,NC_000003.12:155293643:G:C,NC_000003.12:155293643:G:T
                Gene:
                STRIT1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                A=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1487832835 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:155290351 (GRCh38)
                  3:155008140 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:155290350:G:A
                  Gene:
                  STRIT1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1486903567 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:155293482 (GRCh38)
                    3:155011271 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:155293481:C:T
                    Gene:
                    STRIT1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000142/2 (ALFA)
                    T=0.000042/11 (TOPMED)
                    T=0.000043/6 (GnomAD)
                    HGVS:
                    10.

                    rs1485174571 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:155294237 (GRCh38)
                      3:155012026 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:155294236:C:T
                      Gene:
                      STRIT1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1485033117 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:155293281 (GRCh38)
                        3:155011070 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:155293280:C:T
                        Gene:
                        STRIT1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484931479 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:155293117 (GRCh38)
                          3:155010906 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:155293116:A:G
                          Gene:
                          STRIT1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484697177 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:155294782 (GRCh38)
                            3:155012571 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:155294781:A:G
                            Gene:
                            STRIT1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            HGVS:
                            14.

                            rs1483651975 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:155292144 (GRCh38)
                              3:155009933 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:155292143:T:C
                              Gene:
                              STRIT1 (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:
                              15.

                              rs1482162395 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G,T [Show Flanks]
                                Chromosome:
                                3:155290425 (GRCh38)
                                3:155008214 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:155290424:A:C,NC_000003.12:155290424:A:G,NC_000003.12:155290424:A:T
                                Gene:
                                STRIT1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1482114482 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  3:155291528 (GRCh38)
                                  3:155009317 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:155291527:G:T
                                  Gene:
                                  STRIT1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482102310 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:155290007 (GRCh38)
                                    3:155007796 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:155290006:A:G
                                    Gene:
                                    STRIT1 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481632961 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      3:155292775 (GRCh38)
                                      3:155010564 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:155292774:C:A,NC_000003.12:155292774:C:G
                                      Gene:
                                      STRIT1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481279834 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        3:155290301 (GRCh38)
                                        3:155008090 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:155290300:T:A
                                        Gene:
                                        STRIT1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000224/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000223/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1480643091 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:155289841 (GRCh38)
                                          3:155007630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:155289840:T:C
                                          Gene:
                                          STRIT1 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.00004/1 (TOMMO)
                                          HGVS:

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