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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490498093 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    14:38211722 (GRCh38)
    14:38680927 (GRCh37)
    Canonical SPDI:
    NC_000014.9:38211721:G:T
    Gene:
    SSTR1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490032116 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      14:38210137 (GRCh38)
      14:38679342 (GRCh37)
      Canonical SPDI:
      NC_000014.9:38210136:A:G
      Gene:
      SSTR1 (Varview), LOC124903303 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1489749230 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        14:38212320 (GRCh38)
        14:38681525 (GRCh37)
        Canonical SPDI:
        NC_000014.9:38212319:G:T
        Gene:
        SSTR1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489230945 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:38212813 (GRCh38)
          14:38682018 (GRCh37)
          Canonical SPDI:
          NC_000014.9:38212812:A:G
          Gene:
          SSTR1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488771134 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            14:38206145 (GRCh38)
            14:38675350 (GRCh37)
            Canonical SPDI:
            NC_000014.9:38206144:C:G,NC_000014.9:38206144:C:T
            Gene:
            SSTR1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1488582174 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              14:38212552 (GRCh38)
              14:38681757 (GRCh37)
              Canonical SPDI:
              NC_000014.9:38212551:C:A,NC_000014.9:38212551:C:T
              Gene:
              SSTR1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1488057956 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                14:38212250 (GRCh38)
                14:38681455 (GRCh37)
                Canonical SPDI:
                NC_000014.9:38212249:T:C
                Gene:
                SSTR1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000021/3 (GnomAD)
                C=0.000026/7 (TOPMED)
                HGVS:
                8.

                rs1487327997 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:38212873 (GRCh38)
                  14:38682078 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:38212872:A:G
                  Gene:
                  SSTR1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.0002/1 (ALFA)
                  G=0.0002/1 (Estonian)
                  HGVS:
                  9.

                  rs1486995354 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:38209477 (GRCh38)
                    14:38678682 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:38209476:C:T
                    Gene:
                    SSTR1 (Varview), LOC124903303 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.00001/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1486709413 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      14:38206135 (GRCh38)
                      14:38675340 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:38206134:C:A
                      Gene:
                      SSTR1 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486693526 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:38211637 (GRCh38)
                        14:38680842 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:38211636:T:C
                        Gene:
                        SSTR1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1486294213 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:38209290 (GRCh38)
                          14:38678495 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:38209289:G:A
                          Gene:
                          SSTR1 (Varview), LOC124903303 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1486040943 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:38208363 (GRCh38)
                            14:38677568 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:38208362:T:C
                            Gene:
                            SSTR1 (Varview), LOC124903303 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485819953 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              14:38207660 (GRCh38)
                              14:38676865 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:38207659:C:
                              Gene:
                              SSTR1 (Varview), LOC124903303 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000021/3 (GnomAD)
                              -=0.00003/8 (TOPMED)
                              HGVS:
                              15.

                              rs1485815182 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:38210570 (GRCh38)
                                14:38679775 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:38210569:G:A
                                Gene:
                                SSTR1 (Varview), LOC124903303 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1484837591 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  14:38208156 (GRCh38)
                                  14:38677361 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:38208155:T:A
                                  Gene:
                                  SSTR1 (Varview), LOC124903303 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484736066 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:38211635 (GRCh38)
                                    14:38680840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:38211634:T:C
                                    Gene:
                                    SSTR1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    HGVS:
                                    18.

                                    rs1484655474 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:38209747 (GRCh38)
                                      14:38678952 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:38209746:T:C
                                      Gene:
                                      SSTR1 (Varview), LOC124903303 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1484581362 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAT>- [Show Flanks]
                                        Chromosome:
                                        14:38209072 (GRCh38)
                                        14:38678277 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:38209070:TAAT:T
                                        Gene:
                                        SSTR1 (Varview), LOC124903303 (Varview)
                                        Functional Consequence:
                                        intron_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000142/2 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484328287 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          14:38207495 (GRCh38)
                                          14:38676700 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:38207494:T:G
                                          Gene:
                                          SSTR1 (Varview), LOC124903303 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000064/17 (TOPMED)
                                          G=0.000071/1 (TOMMO)
                                          T=0.5/1 (SGDP_PRJ)
                                          HGVS:

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