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 Gene

Items: 1 to 20 of 945

1.

rs1491536066 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TC>- [Show Flanks]
    Chromosome:
    2:6651480 (GRCh38)
    2:6791612 (GRCh37)
    Canonical SPDI:
    NC_000002.12:6651477:TCTC:TC
    Gene:
    MIR7515HG (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTC=0./0 (ALFA)
    HGVS:
    2.

    rs1491521599 has merged into rs762311622 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      2:6651494 (GRCh38)
      2:6791626 (GRCh37)
      Canonical SPDI:
      NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:6651481:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      MIR7515HG (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.6651494_6651506del, NC_000002.12:g.6651495_6651506del, NC_000002.12:g.6651496_6651506del, NC_000002.12:g.6651497_6651506del, NC_000002.12:g.6651498_6651506del, NC_000002.12:g.6651499_6651506del, NC_000002.12:g.6651500_6651506del, NC_000002.12:g.6651501_6651506del, NC_000002.12:g.6651502_6651506del, NC_000002.12:g.6651503_6651506del, NC_000002.12:g.6651504_6651506del, NC_000002.12:g.6651505_6651506del, NC_000002.12:g.6651506del, NC_000002.12:g.6651506dup, NC_000002.12:g.6651505_6651506dup, NC_000002.12:g.6651504_6651506dup, NC_000002.12:g.6651503_6651506dup, NC_000002.12:g.6651502_6651506dup, NC_000002.12:g.6651501_6651506dup, NC_000002.12:g.6651500_6651506dup, NC_000002.12:g.6651499_6651506dup, NC_000002.12:g.6651498_6651506dup, NC_000002.12:g.6651497_6651506dup, NC_000002.12:g.6651496_6651506dup, NC_000002.12:g.6651489_6651506dup, NC_000002.12:g.6651506_6651507insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.6651482_6651506A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.6791626_6791638del, NC_000002.11:g.6791627_6791638del, NC_000002.11:g.6791628_6791638del, NC_000002.11:g.6791629_6791638del, NC_000002.11:g.6791630_6791638del, NC_000002.11:g.6791631_6791638del, NC_000002.11:g.6791632_6791638del, NC_000002.11:g.6791633_6791638del, NC_000002.11:g.6791634_6791638del, NC_000002.11:g.6791635_6791638del, NC_000002.11:g.6791636_6791638del, NC_000002.11:g.6791637_6791638del, NC_000002.11:g.6791638del, NC_000002.11:g.6791638dup, NC_000002.11:g.6791637_6791638dup, NC_000002.11:g.6791636_6791638dup, NC_000002.11:g.6791635_6791638dup, NC_000002.11:g.6791634_6791638dup, NC_000002.11:g.6791633_6791638dup, NC_000002.11:g.6791632_6791638dup, NC_000002.11:g.6791631_6791638dup, NC_000002.11:g.6791630_6791638dup, NC_000002.11:g.6791629_6791638dup, NC_000002.11:g.6791628_6791638dup, NC_000002.11:g.6791621_6791638dup, NC_000002.11:g.6791638_6791639insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.6791614_6791638A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
      3.

      rs1491406594 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TG [Show Flanks]
        Chromosome:
        2:6651478 (GRCh38)
        2:6791611 (GRCh37)
        Canonical SPDI:
        NC_000002.12:6651478::TG
        Gene:
        MIR7515HG (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        TG=0.00032/12 (GnomAD)
        HGVS:
        4.

        rs1491311219 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->TA
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491061984 has merged into rs34459591 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            2:6651612 (GRCh38)
            2:6791744 (GRCh37)
            Canonical SPDI:
            NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:6651606:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            MIR7515HG (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTT=0./0 (ALFA)
            T=0.4553/2280 (1000Genomes)
            HGVS:
            NC_000002.12:g.6651612_6651621del, NC_000002.12:g.6651614_6651621del, NC_000002.12:g.6651616_6651621del, NC_000002.12:g.6651617_6651621del, NC_000002.12:g.6651619_6651621del, NC_000002.12:g.6651620_6651621del, NC_000002.12:g.6651621del, NC_000002.12:g.6651621dup, NC_000002.12:g.6651620_6651621dup, NC_000002.12:g.6651619_6651621dup, NC_000002.12:g.6651618_6651621dup, NC_000002.12:g.6651617_6651621dup, NC_000002.12:g.6651611_6651621dup, NC_000002.11:g.6791744_6791753del, NC_000002.11:g.6791746_6791753del, NC_000002.11:g.6791748_6791753del, NC_000002.11:g.6791749_6791753del, NC_000002.11:g.6791751_6791753del, NC_000002.11:g.6791752_6791753del, NC_000002.11:g.6791753del, NC_000002.11:g.6791753dup, NC_000002.11:g.6791752_6791753dup, NC_000002.11:g.6791751_6791753dup, NC_000002.11:g.6791750_6791753dup, NC_000002.11:g.6791749_6791753dup, NC_000002.11:g.6791743_6791753dup
            6.

            rs1490942315 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:6650277 (GRCh38)
              2:6790409 (GRCh37)
              Canonical SPDI:
              NC_000002.12:6650276:T:C
              Gene:
              MIR7515 (Varview), MIR7515HG (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489960097 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:6651014 (GRCh38)
                2:6791146 (GRCh37)
                Canonical SPDI:
                NC_000002.12:6651013:C:T
                Gene:
                MIR7515HG (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1489767138 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:6651022 (GRCh38)
                  2:6791154 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:6651021:C:T
                  Gene:
                  MIR7515HG (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  T=0.000071/1 (TOMMO)
                  HGVS:
                  9.

                  rs1489209614 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:6652016 (GRCh38)
                    2:6792148 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:6652015:C:T
                    Gene:
                    MIR7515HG (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000224/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000223/1 (Estonian)
                    HGVS:
                    10.

                    rs1489178388 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      2:6650177 (GRCh38)
                      2:6790309 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:6650176:T:A
                      Gene:
                      MIR7515 (Varview), MIR7515HG (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489157856 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:6651772 (GRCh38)
                        2:6791904 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:6651771:A:G
                        Gene:
                        MIR7515HG (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1489130291 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TCAA>- [Show Flanks]
                          Chromosome:
                          2:6651480 (GRCh38)
                          2:6791612 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:6651479:TCAA:
                          Gene:
                          MIR7515HG (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.03102/368 (ALFA)
                          -=0.00024/8 (GnomAD)
                          -=0.0058/162 (TOMMO)
                          HGVS:
                          13.

                          rs1488679845 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            2:6649880 (GRCh38)
                            2:6790012 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:6649879:T:A,NC_000002.12:6649879:T:C
                            Gene:
                            MIR7515 (Varview), MIR7515HG (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1487811391 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:6651724 (GRCh38)
                              2:6791856 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:6651723:G:A
                              Gene:
                              MIR7515HG (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484530033 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                2:6651442 (GRCh38)
                                2:6791574 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:6651441:C:A
                                Gene:
                                MIR7515HG (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000084/1 (ALFA)
                                A=0.000008/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483718676 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  2:6651617 (GRCh38)
                                  2:6791749 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:6651616:T:G
                                  Gene:
                                  MIR7515HG (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482147130 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:6648842 (GRCh38)
                                    2:6788974 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:6648841:G:C
                                    Gene:
                                    MIR7515 (Varview), MIR7515HG (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1479606541 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:6651125 (GRCh38)
                                      2:6791257 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:6651124:C:T
                                      Gene:
                                      MIR7515HG (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1479207502 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:6651274 (GRCh38)
                                        2:6791406 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:6651273:T:C
                                        Gene:
                                        MIR7515HG (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1478772726 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:6651820 (GRCh38)
                                          2:6791952 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:6651819:G:A
                                          Gene:
                                          MIR7515HG (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          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...