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Links from Gene

Items: 1 to 20 of 3980

1.

rs1491510824 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TA [Show Flanks]
    Chromosome:
    5:67185287 (GRCh38)
    5:66481116 (GRCh37)
    Canonical SPDI:
    NC_000005.10:67185287:TA:TATA
    Gene:
    CD180 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATA=0./0 (ALFA)
    TA=0.000004/1 (TOPMED)
    TA=0.000025/1 (GnomAD)
    HGVS:
    2.

    rs1491233420 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      5:67185329 (GRCh38)
      5:66481157 (GRCh37)
      Canonical SPDI:
      NC_000005.10:67185327:CGC:C
      Gene:
      CD180 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.023773/282 (ALFA)
      -=0.008333/5 (NorthernSweden)
      -=0.025/1 (GENOME_DK)
      -=0.025947/100 (ALSPAC)
      -=0.032093/119 (TWINSUK)
      -=0.034086/4483 (GnomAD)
      -=0.166302/304 (Korea1K)
      -=0.178093/2981 (TOMMO)
      HGVS:
      3.

      rs1490562740 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        5:67186677 (GRCh38)
        5:66482505 (GRCh37)
        Canonical SPDI:
        NC_000005.10:67186676:A:C
        Gene:
        CD180 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000094/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490540887 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:67193655 (GRCh38)
          5:66489483 (GRCh37)
          Canonical SPDI:
          NC_000005.10:67193654:T:C
          Gene:
          CD180 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489933475 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            5:67186838 (GRCh38)
            5:66482666 (GRCh37)
            Canonical SPDI:
            NC_000005.10:67186837:T:C
            Gene:
            CD180 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000016/2 (GnomAD)
            HGVS:
            6.

            rs1489289867 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:67195666 (GRCh38)
              5:66491494 (GRCh37)
              Canonical SPDI:
              NC_000005.10:67195665:C:T
              Gene:
              CD180 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1489228627 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                5:67190822 (GRCh38)
                5:66486650 (GRCh37)
                Canonical SPDI:
                NC_000005.10:67190821:CCC:CC
                Gene:
                CD180 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                -=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1489094398 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  5:67186964 (GRCh38)
                  5:66482792 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:67186963:C:A,NC_000005.10:67186963:C:T
                  Gene:
                  CD180 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489040411 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    5:67190295 (GRCh38)
                    5:66486123 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:67190294:C:G
                    Gene:
                    CD180 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488993161 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      5:67191867 (GRCh38)
                      5:66487695 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:67191866:AAAAA:AAAA
                      Gene:
                      CD180 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAA=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488923541 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        5:67195805 (GRCh38)
                        5:66491633 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:67195804:C:A
                        Gene:
                        CD180 (Varview)
                        Functional Consequence:
                        genic_upstream_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:
                        12.

                        rs1488848323 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          5:67191970 (GRCh38)
                          5:66487798 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:67191969:C:G
                          Gene:
                          CD180 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1488838318 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            5:67188068 (GRCh38)
                            5:66483896 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:67188067:G:T
                            Gene:
                            CD180 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488751895 has merged into rs1324771100 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTTT>-,CTTTTCTTTT [Show Flanks]
                              Chromosome:
                              5:67182321 (GRCh38)
                              5:66478149 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:67182310:CTTTTCTTTTCTTTT:CTTTTCTTTT,NC_000005.10:67182310:CTTTTCTTTTCTTTT:CTTTTCTTTTCTTTTCTTTT
                              Gene:
                              CD180 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTTTTCTTTTCTTTTCTTTT=0./0 (ALFA)
                              -=0.000043/6 (GnomAD)
                              -=0.000318/5 (TOMMO)
                              HGVS:
                              15.

                              rs1488740293 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:67184552 (GRCh38)
                                5:66480380 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:67184551:A:G
                                Gene:
                                CD180 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488372822 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:67187069 (GRCh38)
                                  5:66482897 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:67187068:T:C
                                  Gene:
                                  CD180 (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)
                                  C=0.000312/2 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1488341221 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:67195103 (GRCh38)
                                    5:66490931 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:67195102:C:T
                                    Gene:
                                    CD180 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,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:
                                    18.

                                    rs1487832334 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTCTATACAAATTAC>- [Show Flanks]
                                      Chromosome:
                                      5:67188332 (GRCh38)
                                      5:66484160 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:67188324:AAATTACTTTTCTATACAAATTAC:AAATTAC
                                      Gene:
                                      CD180 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAATTAC=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487674209 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:67197066 (GRCh38)
                                        5:66492894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:67197065:A:G
                                        Gene:
                                        CD180 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000019/5 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487558723 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:67195710 (GRCh38)
                                          5:66491538 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:67195709:T:C
                                          Gene:
                                          CD180 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000042/11 (TOPMED)
                                          C=0.000043/6 (GnomAD)
                                          HGVS:

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