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Links from Gene

Items: 1 to 20 of 1760

3.

rs1490556156 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:29827637 (GRCh38)
    6:29795414 (GRCh37)
    Canonical SPDI:
    NC_000006.12:29827636:T:C
    Gene:
    HLA-G (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    4.

    rs1490486331 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:29825636 (GRCh38)
      6:29793413 (GRCh37)
      Canonical SPDI:
      NC_000006.12:29825635:G:A
      Gene:
      HLA-G (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      6.

      rs1490127560 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:29827748 (GRCh38)
        6:29795525 (GRCh37)
        Canonical SPDI:
        NC_000006.12:29827747:G:A
        Gene:
        HLA-G (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,5_prime_UTR_variant,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:
        8.

        rs1489965131 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:29827316 (GRCh38)
          6:29795093 (GRCh37)
          Canonical SPDI:
          NC_000006.12:29827315:T:C
          Gene:
          HLA-G (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          9.

          rs1489890404 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            6:29827905 (GRCh38)
            6:29795682 (GRCh37)
            Canonical SPDI:
            NC_000006.12:29827904:G:A,NC_000006.12:29827904:G:C
            Gene:
            HLA-G (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            A=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.29827905G>A, NC_000006.12:g.29827905G>C, NC_000006.11:g.29795682G>A, NC_000006.11:g.29795682G>C, NG_029039.1:g.5927G>A, NG_029039.1:g.5927G>C, NM_002127.6:c.61G>A, NM_002127.6:c.61G>C, NM_002127.5:c.61G>A, NM_002127.5:c.61G>C, NM_001363567.2:c.76G>A, NM_001363567.2:c.76G>C, NM_001363567.1:c.76G>A, NM_001363567.1:c.76G>C, NM_001384280.1:c.76G>A, NM_001384280.1:c.76G>C, NM_001384290.1:c.61G>A, NM_001384290.1:c.61G>C, NT_113891.3:g.1311467G>A, NT_113891.3:g.1311467G>C, NT_113891.2:g.1311573G>A, NT_113891.2:g.1311573G>C, NT_167247.2:g.1090376G>A, NT_167247.2:g.1090376G>C, NT_167247.1:g.1095961G>A, NT_167247.1:g.1095961G>C, NT_167246.2:g.1090391G>A, NT_167246.2:g.1090391G>C, NT_167246.1:g.1096011G>A, NT_167246.1:g.1096011G>C, NT_167245.2:g.1090718G>A, NT_167245.2:g.1090718G>C, NT_167245.1:g.1096303G>A, NT_167245.1:g.1096303G>C, NT_167248.2:g.1090671G>A, NT_167248.2:g.1090671G>C, NT_167248.1:g.1096267G>A, NT_167248.1:g.1096267G>C, NT_167244.2:g.1093517G>A, NT_167244.2:g.1093517G>C, NW_003871063.1:g.69694G>A, NW_003871063.1:g.69694G>C, NT_167249.2:g.1133936G>A, NT_167249.2:g.1133936G>C, NT_167249.1:g.1133234G>A, NT_167249.1:g.1133234G>C, XM_024446420.2:c.76G>A, XM_024446420.2:c.76G>C, XM_024446420.1:c.61G>A, XM_024446420.1:c.61G>C, XM_017010818.2:c.76G>A, XM_017010818.2:c.76G>C, XM_017010818.1:c.61G>A, XM_017010818.1:c.61G>C, XM_047418722.1:c.76G>A, XM_047418722.1:c.76G>C, NP_002118.1:p.Glu21Lys, NP_002118.1:p.Glu21Gln, NP_001350496.1:p.Glu26Lys, NP_001350496.1:p.Glu26Gln, NP_001371209.1:p.Glu26Lys, NP_001371209.1:p.Glu26Gln, NP_001371219.1:p.Glu21Lys, NP_001371219.1:p.Glu21Gln, XP_024302188.2:p.Glu26Lys, XP_024302188.2:p.Glu26Gln, XP_016866307.2:p.Glu26Lys, XP_016866307.2:p.Glu26Gln, XP_047274678.1:p.Glu26Lys, XP_047274678.1:p.Glu26Gln
            10.

            rs1489657579 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:29831270 (GRCh38)
              6:29799047 (GRCh37)
              Canonical SPDI:
              NC_000006.12:29831269:A:G
              Gene:
              HLA-G (Varview)
              Functional Consequence:
              downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              11.

              rs1489356267 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                6:29830653 (GRCh38)
                6:29798430 (GRCh37)
                Canonical SPDI:
                NC_000006.12:29830652:A:C
                Gene:
                HLA-G (Varview)
                Functional Consequence:
                downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                C=0.000021/3 (GnomAD)
                HGVS:
                12.

                rs1489060190 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:29831515 (GRCh38)
                  6:29799292 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:29831514:C:T
                  Gene:
                  HLA-G (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000076/10 (GnomAD)
                  T=0.001369/4 (KOREAN)
                  HGVS:
                  15.

                  rs1488224479 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:29825749 (GRCh38)
                    6:29793526 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:29825748:C:T
                    Gene:
                    HLA-G (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000064/17 (TOPMED)
                    T=0.000142/2 (TOMMO)
                    HGVS:
                    16.
                    18.
                    19.

                    rs1486457178 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      6:29826484 (GRCh38)
                      6:29794261 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:29826483:G:C
                      Gene:
                      HLA-G (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000019/5 (TOPMED)
                      C=0.000029/4 (GnomAD)
                      HGVS:

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