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: 1 to 20 of 27

1.

rs1486570671 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:53751278 (GRCh38)
    19:54254532 (GRCh37)
    Canonical SPDI:
    NC_000019.10:53751277:T:C
    Gene:
    MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    C=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1442605545 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:53751269 (GRCh38)
      19:54254523 (GRCh37)
      Canonical SPDI:
      NC_000019.10:53751268:G:A
      Gene:
      MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1433875736 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        19:53751279 (GRCh38)
        19:54254533 (GRCh37)
        Canonical SPDI:
        NC_000019.10:53751278:A:C
        Gene:
        MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1389119792 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CTTTCTGTTGTCTGAAAG>- [Show Flanks]
          Chromosome:
          19:53751241 (GRCh38)
          19:54254495 (GRCh37)
          Canonical SPDI:
          NC_000019.10:53751239:GCTTTCTGTTGTCTGAAAG:G
          Gene:
          MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1377113006 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            19:53751231 (GRCh38)
            19:54254485 (GRCh37)
            Canonical SPDI:
            NC_000019.10:53751230:G:C
            Gene:
            MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            C=0.000024/6 (GnomAD_exomes)
            HGVS:
            6.

            rs1376187440 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              19:53751270 (GRCh38)
              19:54254524 (GRCh37)
              Canonical SPDI:
              NC_000019.10:53751269:G:A,NC_000019.10:53751269:G:T
              Gene:
              MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1361123574 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                19:53751229 (GRCh38)
                19:54254483 (GRCh37)
                Canonical SPDI:
                NC_000019.10:53751228:T:G
                Gene:
                MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,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:
                8.

                rs1359188650 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:53751284 (GRCh38)
                  19:54254538 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:53751283:G:A
                  Gene:
                  MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0./0 (GnomAD)
                  A=0.000033/4 (ExAC)
                  A=0.000068/17 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1290577583 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    19:53751264 (GRCh38)
                    19:54254518 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:53751263:AAAA:AAA
                    Gene:
                    MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AAA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1235190080 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:53751277 (GRCh38)
                      19:54254531 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:53751276:T:C
                      Gene:
                      MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1190989970 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:53751280 (GRCh38)
                        19:54254534 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:53751279:G:A
                        Gene:
                        MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1012578303 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:53751235 (GRCh38)
                          19:54254489 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:53751234:G:A
                          Gene:
                          MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs781379833 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            19:53751288 (GRCh38)
                            19:54254542 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:53751287:C:G,NC_000019.10:53751287:C:T
                            Gene:
                            MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000016/4 (GnomAD_exomes)
                            T=0.000017/2 (ExAC)
                            HGVS:
                            14.

                            rs778841097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:53751243 (GRCh38)
                              19:54254497 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:53751242:T:C
                              Gene:
                              MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0./0 (TWINSUK)
                              C=0.0003/1 (ALSPAC)
                              HGVS:
                              15.

                              rs776468139 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                19:53751217 (GRCh38)
                                19:54254471 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:53751216:G:C
                                Gene:
                                MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000008/1 (ExAC)
                                HGVS:
                                16.

                                rs770673662 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  19:53751214 (GRCh38)
                                  19:54254468 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:53751213:C:G,NC_000019.10:53751213:C:T
                                  Gene:
                                  MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/1 (ExAC)
                                  G=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs769241317 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:53751296 (GRCh38)
                                    19:54254550 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:53751295:G:A
                                    Gene:
                                    MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000067/3 (ALFA)
                                    A=0.000038/10 (TOPMED)
                                    A=0.000043/6 (GnomAD)
                                    A=0.000056/14 (GnomAD_exomes)
                                    A=0.000075/9 (ExAC)
                                    HGVS:
                                    18.

                                    rs765188254 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:53751239 (GRCh38)
                                      19:54254493 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:53751238:C:T
                                      Gene:
                                      MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,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=0.000008/1 (ExAC)
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs762959743 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        19:53751242 (GRCh38)
                                        19:54254496 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:53751241:T:A
                                        Gene:
                                        MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000008/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs759389170 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          19:53751222 (GRCh38)
                                          19:54254476 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:53751221:G:A,NC_000019.10:53751221:G:C
                                          Gene:
                                          MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          C=0.000008/1 (ExAC)
                                          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...