U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 14

1.

rs1403670182 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    11:9090344 (GRCh38)
    11:9111892 (GRCh37)
    Canonical SPDI:
    NC_000011.10:9090344:T:TT
    Gene:
    SCUBE2 (Varview), MIR5691 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    HGVS:
    2.

    rs1383063414 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:9090312 (GRCh38)
      11:9111859 (GRCh37)
      Canonical SPDI:
      NC_000011.10:9090311:G:A
      Gene:
      SCUBE2 (Varview), MIR5691 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1363298138 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGTC>- [Show Flanks]
        Chromosome:
        11:9090345 (GRCh38)
        11:9111892 (GRCh37)
        Canonical SPDI:
        NC_000011.10:9090339:CTGTCTGTC:CTGTC
        Gene:
        SCUBE2 (Varview), MIR5691 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        CTGTC=0.000084/1 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1349275342 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          11:9090342 (GRCh38)
          11:9111889 (GRCh37)
          Canonical SPDI:
          NC_000011.10:9090341:G:C
          Gene:
          SCUBE2 (Varview), MIR5691 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1286183089 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:9090372 (GRCh38)
            11:9111919 (GRCh37)
            Canonical SPDI:
            NC_000011.10:9090371:G:A
            Gene:
            SCUBE2 (Varview), MIR5691 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1281471225 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:9090313 (GRCh38)
              11:9111860 (GRCh37)
              Canonical SPDI:
              NC_000011.10:9090312:G:A
              Gene:
              SCUBE2 (Varview), MIR5691 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1172229307 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:9090359 (GRCh38)
                11:9111906 (GRCh37)
                Canonical SPDI:
                NC_000011.10:9090358:G:A
                Gene:
                SCUBE2 (Varview), MIR5691 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1046031794 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  11:9090346 (GRCh38)
                  11:9111894 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:9090346:T:TT
                  Gene:
                  SCUBE2 (Varview), MIR5691 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TT=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1042238449 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    11:9090369 (GRCh38)
                    11:9111916 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:9090368:C:A,NC_000011.10:9090368:C:G
                    Gene:
                    SCUBE2 (Varview), MIR5691 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by cluster
                    HGVS:
                    10.

                    rs915875999 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:9090324 (GRCh38)
                      11:9111871 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:9090323:T:C
                      Gene:
                      SCUBE2 (Varview), MIR5691 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs768051859 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:9090337 (GRCh38)
                        11:9111884 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:9090336:C:T
                        Gene:
                        SCUBE2 (Varview), MIR5691 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by cluster
                        HGVS:
                        12.

                        rs572335129 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C,G [Show Flanks]
                          Chromosome:
                          11:9090341 (GRCh38)
                          11:9111888 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:9090340:T:A,NC_000011.10:9090340:T:C,NC_000011.10:9090340:T:G
                          Gene:
                          SCUBE2 (Varview), MIR5691 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.00016/1 (1000Genomes)
                          A=0.00026/1 (ALSPAC)
                          A=0.00081/3 (TWINSUK)
                          A=0.00134/6 (Estonian)
                          T=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs554804494 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            11:9090361 (GRCh38)
                            11:9111908 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:9090360:G:A,NC_000011.10:9090360:G:C
                            Gene:
                            SCUBE2 (Varview), MIR5691 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            A=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs112511786 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              11:9090358 (GRCh38)
                              11:9111905 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:9090357:G:A,NC_000011.10:9090357:G:C
                              Gene:
                              SCUBE2 (Varview), MIR5691 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0./0 (ExAC)
                              C=0.012336/1730 (GnomAD)
                              C=0.013268/3512 (TOPMED)
                              C=0.013898/70 (1000Genomes)
                              G=0.5/8 (SGDP_PRJ)
                              HGVS:

                              Display Settings:

                              Format
                              Items per page
                              Sort by

                              Send to:

                              Choose Destination

                              Supplemental Content

                              Find related data

                              Recent activity

                              Your browsing activity is empty.

                              Activity recording is turned off.

                              Turn recording back on

                              See more...