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Links from Gene

Items: 1 to 20 of 2306

1.

rs1491537542 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->AACA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1490694079 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      3:51903105 (GRCh38)
      3:51937121 (GRCh37)
      Canonical SPDI:
      NC_000003.12:51903104:GGGG:GGG
      Gene:
      IQCF1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGG=0.000224/1 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1490682897 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        3:51900103 (GRCh38)
        3:51934119 (GRCh37)
        Canonical SPDI:
        NC_000003.12:51900102:C:A
        Gene:
        IQCF1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490352936 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          3:51895050 (GRCh38)
          3:51929066 (GRCh37)
          Canonical SPDI:
          NC_000003.12:51895049:A:T
          Gene:
          IQCF1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1490330784 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            3:51904628 (GRCh38)
            3:51938644 (GRCh37)
            Canonical SPDI:
            NC_000003.12:51904625:TGTG:TG
            Gene:
            IQCF1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGTG=0.000142/2 (ALFA)
            -=0.000014/2 (GnomAD)
            -=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1490160095 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:51895327 (GRCh38)
              3:51929343 (GRCh37)
              Canonical SPDI:
              NC_000003.12:51895326:T:G
              Gene:
              IQCF1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000005/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1489500966 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:51898301 (GRCh38)
                3:51932317 (GRCh37)
                Canonical SPDI:
                NC_000003.12:51898300:T:C
                Gene:
                IQCF1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489447795 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:51899332 (GRCh38)
                  3:51933348 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:51899331:A:G
                  Gene:
                  IQCF1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489048925 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:51899199 (GRCh38)
                    3:51933215 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:51899198:A:G
                    Gene:
                    IQCF1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_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.

                    rs1488841039 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      3:51902915 (GRCh38)
                      3:51936931 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:51902914:C:G
                      Gene:
                      IQCF1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488664292 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:51896703 (GRCh38)
                        3:51930719 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:51896702:A:G
                        Gene:
                        IQCF1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000061/1 (ALFA)
                        G=0.000015/2 (GnomAD)
                        HGVS:
                        12.

                        rs1487523193 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          3:51897871 (GRCh38)
                          3:51931887 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:51897870:G:T
                          Gene:
                          IQCF1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1486559752 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:51896971 (GRCh38)
                            3:51930987 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:51896970:T:C
                            Gene:
                            IQCF1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1486508911 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:51897981 (GRCh38)
                              3:51931997 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:51897980:C:T
                              Gene:
                              IQCF1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1486018691 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                3:51894526 (GRCh38)
                                3:51928542 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:51894525:C:A
                                Gene:
                                IQCF1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1485992623 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:51900137 (GRCh38)
                                  3:51934153 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:51900136:A:C
                                  Gene:
                                  IQCF1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485544432 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:51896953 (GRCh38)
                                    3:51930969 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:51896952:G:A
                                    Gene:
                                    IQCF1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485362954 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      3:51904269 (GRCh38)
                                      3:51938285 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:51904268:G:A,NC_000003.12:51904268:G:C
                                      Gene:
                                      IQCF1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485027742 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GGTGGCTACCGTATCTT>- [Show Flanks]
                                        Chromosome:
                                        3:51895289 (GRCh38)
                                        3:51929305 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:51895283:ATCTTGGTGGCTACCGTATCTT:ATCTT
                                        Gene:
                                        IQCF1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        ATCTT=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485019327 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:51895552 (GRCh38)
                                          3:51929568 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:51895551:G:A
                                          Gene:
                                          IQCF1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000224/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000223/1 (Estonian)
                                          HGVS:

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