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Items: 1 to 20 of 39767

1.

rs4673 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    16:88646828 (GRCh38)
    16:88713236 (GRCh37)
    Canonical SPDI:
    NC_000016.10:88646827:A:G,NC_000016.10:88646827:A:T
    Gene:
    CYBA (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    benign,likely-pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.344466/63753 (ALFA)
    A=0.055738/34 (Vietnamese)
    A=0.09215/270 (KOREAN)
    A=0.092249/169 (Korea1K)
    A=0.165563/50 (FINRISK)
    A=0.196/98 (SGDP_PRJ)
    A=0.225/9 (GENOME_DK)
    A=0.246667/148 (NorthernSweden)
    A=0.269231/14 (Siberian)
    A=0.292706/610 (HGDP_Stanford)
    A=0.292857/1312 (Estonian)
    A=0.302295/75763 (GnomAD_exomes)
    A=0.30917/37344 (ExAC)
    A=0.328657/328 (GoNL)
    A=0.332382/1281 (ALSPAC)
    A=0.33487/10460 (GnomAD)
    A=0.335663/1681 (1000Genomes)
    A=0.344459/27102 (PAGE_STUDY)
    A=0.349118/43838 (TOPMED)
    A=0.354639/1315 (TWINSUK)
    A=0.363108/687 (HapMap)
    A=0.363296/194 (MGP)
    A=0.407407/88 (Qatari)
    HGVS:
    2.

    rs6054 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:154568456 (GRCh38)
      4:155489608 (GRCh37)
      Canonical SPDI:
      NC_000004.12:154568455:C:T
      Gene:
      FGB (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      likely-benign,likely-pathogenic,pathogenic,uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.003997/516 (ALFA)
      T=0.000223/1 (Estonian)
      T=0.000342/1 (KOREAN)
      T=0.000998/5 (1000Genomes)
      T=0.001029/81 (PAGE_STUDY)
      T=0.002352/591 (GnomAD_exomes)
      T=0.002431/295 (ExAC)
      T=0.002585/81 (GnomAD)
      T=0.002955/371 (TOPMED)
      T=0.003067/1 (HapMap)
      T=0.003152/41 (GoESP)
      T=0.003289/1 (FINRISK)
      T=0.005708/22 (ALSPAC)
      T=0.006667/4 (NorthernSweden)
      T=0.006742/25 (TWINSUK)
      T=0.007014/7 (GoNL)
      HGVS:
      3.

      rs6122 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:93927251 (GRCh38)
        3:93646095 (GRCh37)
        Canonical SPDI:
        NC_000003.12:93927250:G:A
        Gene:
        PROS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Clinical significance:
        likely-pathogenic,uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000046/4 (ALFA)
        A=0.000052/13 (GnomAD_exomes)
        A=0.000058/7 (ExAC)
        A=0.000072/9 (TOPMED)
        A=0.0002/1 (1000Genomes)
        A=0.000259/1 (ALSPAC)
        A=0.00027/1 (TWINSUK)
        HGVS:
        4.

        rs13451 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          11:19186294 (GRCh38)
          11:19207841 (GRCh37)
          Canonical SPDI:
          NC_000011.10:19186293:C:G,NC_000011.10:19186293:C:T
          Gene:
          CSRP3 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Clinical significance:
          likely-benign,benign,likely-pathogenic
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.098789/13281 (ALFA)
          G=0.000342/1 (KOREAN)
          T=0.00974/6 (Vietnamese)
          T=0.041534/26 (Chileans)
          T=0.042732/214 (1000Genomes)
          T=0.049424/103 (HGDP_Stanford)
          T=0.050926/11 (Qatari)
          T=0.063796/80 (HapMap)
          T=0.06692/8403 (TOPMED)
          T=0.070182/2203 (GnomAD)
          T=0.07748/1006 (GoESP)
          T=0.08817/395 (Estonian)
          T=0.091549/104 (Daghestan)
          T=0.097378/52 (MGP)
          T=0.104908/389 (TWINSUK)
          T=0.10768/415 (ALSPAC)
          T=0.114228/114 (GoNL)
          T=0.121711/37 (FINRISK)
          T=0.125/5 (GENOME_DK)
          T=0.136667/82 (NorthernSweden)
          C=0.44/22 (SGDP_PRJ)
          C=0.5/1 (Siberian)
          HGVS:
          5.

          rs25388 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            15:48610768 (GRCh38)
            15:48902965 (GRCh37)
            Canonical SPDI:
            NC_000015.10:48610767:G:A,NC_000015.10:48610767:G:T
            Gene:
            FBN1 (Varview)
            Functional Consequence:
            stop_gained,coding_sequence_variant,synonymous_variant
            Clinical significance:
            likely-benign,benign,likely-pathogenic,benign-likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.00349/39 (ALFA)
            A=0.000799/4 (1000Genomes)
            A=0.002679/12 (Estonian)
            A=0.003121/98 (GnomAD)
            A=0.0036/452 (TOPMED)
            A=0.003739/940 (GnomAD_exomes)
            A=0.004086/495 (ExAC)
            A=0.004928/64 (GoESP)
            A=0.005618/3 (MGP)
            A=0.005708/22 (ALSPAC)
            A=0.007014/7 (GoNL)
            A=0.007282/27 (TWINSUK)
            A=0.009868/3 (FINRISK)
            A=0.01/6 (NorthernSweden)
            A=0.025/1 (GENOME_DK)
            G=0.5/1 (SGDP_PRJ)
            G=0.5/1 (Siberian)
            HGVS:
            6.

            rs25403 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:48613073 (GRCh38)
              15:48905270 (GRCh37)
              Canonical SPDI:
              NC_000015.10:48613072:G:A
              Gene:
              FBN1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              pathogenic,likely-pathogenic
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.00002/1 (ALFA)
              A=0.00392/3 (HapMap)
              HGVS:
              7.

              rs140592 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:48489947 (GRCh38)
                15:48782144 (GRCh37)
                Canonical SPDI:
                NC_000015.10:48489946:A:G
                Gene:
                FBN1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Clinical significance:
                likely-pathogenic
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.00003/1 (GnomAD)
                G=0.00198/1 (HapMap)
                HGVS:
                8.

                rs140597 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:48487437 (GRCh38)
                  15:48779634 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:48487436:T:C
                  Gene:
                  FBN1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  pathogenic,likely-pathogenic
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.00006/4 (ALFA)
                  C=0.00314/1 (HapMap)
                  HGVS:
                  9.

                  rs140638 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:48474593 (GRCh38)
                    15:48766790 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:48474592:T:C
                    Gene:
                    FBN1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance,likely-pathogenic
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0./0 (HapMap)
                    HGVS:
                    10.

                    rs140648 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:48481656 (GRCh38)
                      15:48773853 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:48481655:T:C
                      Gene:
                      FBN1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Clinical significance:
                      likely-pathogenic
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (HapMap)
                      HGVS:
                      11.

                      rs214088 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        11:17276578 (GRCh38)
                        11:17298125 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:17276577:C:A,NC_000011.10:17276577:C:G,NC_000011.10:17276577:C:T
                        Gene:
                        NUCB2 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Clinical significance:
                        likely-pathogenic
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.395795/866 (ALFA)
                        C=0.16564/484 (KOREAN)
                        C=0.174419/315 (Korea1K)
                        C=0.214953/46 (Vietnamese)
                        C=0.247012/124 (SGDP_PRJ)
                        C=0.315789/12 (Siberian)
                        C=0.334864/1677 (1000Genomes)
                        C=0.3644/45757 (TOPMED)
                        C=0.375/15 (GENOME_DK)
                        C=0.390355/12222 (GnomAD)
                        C=0.402778/87 (Qatari)
                        C=0.413077/1592 (ALSPAC)
                        C=0.424757/1575 (TWINSUK)
                        C=0.452009/2025 (Estonian)
                        C=0.485/291 (NorthernSweden)
                        HGVS:
                        12.

                        rs363804 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          15:48441771 (GRCh38)
                          15:48733968 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:48441770:C:G,NC_000015.10:48441770:C:T
                          Gene:
                          FBN1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          likely-pathogenic
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0./0 (HapMap)
                          HGVS:
                          13.

                          rs363808 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            15:48445375 (GRCh38)
                            15:48737572 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:48445374:C:A,NC_000015.10:48445374:C:T
                            Gene:
                            FBN1 (Varview)
                            Functional Consequence:
                            splice_donor_variant
                            Clinical significance:
                            pathogenic,likely-pathogenic
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (HapMap)
                            HGVS:
                            14.

                            rs363810 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              15:48422024 (GRCh38)
                              15:48714221 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:48422023:A:G,NC_000015.10:48422023:A:T
                              Gene:
                              FBN1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Clinical significance:
                              pathogenic,likely-pathogenic
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0./0 (HapMap)
                              HGVS:
                              15.

                              rs363811 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:48421982 (GRCh38)
                                15:48714179 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:48421981:C:T
                                Gene:
                                FBN1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance,likely-pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.0053/5 (HapMap)
                                HGVS:
                                16.

                                rs363815 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  15:48437370 (GRCh38)
                                  15:48729567 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:48437369:A:G
                                  Gene:
                                  FBN1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  likely-pathogenic
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.00002/1 (ALFA)
                                  G=0.00198/1 (HapMap)
                                  HGVS:
                                  17.

                                  rs363821 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    15:48434701 (GRCh38)
                                    15:48726898 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:48434700:C:A,NC_000015.10:48434700:C:T
                                    Gene:
                                    FBN1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    likely-pathogenic
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.00658/5 (HapMap)
                                    HGVS:
                                    18.

                                    rs363852 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      15:48596325 (GRCh38)
                                      15:48888522 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:48596324:A:G,NC_000015.10:48596324:A:T
                                      Gene:
                                      FBN1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Clinical significance:
                                      likely-pathogenic
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.002/1 (HapMap)
                                      HGVS:
                                      19.

                                      rs363853 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:48596292 (GRCh38)
                                        15:48888489 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:48596291:A:G
                                        Gene:
                                        FBN1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        likely-pathogenic
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0./0 (HapMap)
                                        HGVS:
                                        20.

                                        rs364897 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:155238215 (GRCh38)
                                          1:155208006 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:155238214:T:C
                                          Gene:
                                          GBA (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          likely-pathogenic,pathogenic
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000089/1 (ALFA)
                                          C=0.000068/8 (ExAC)
                                          C=0.000072/18 (GnomAD_exomes)
                                          C=0.000119/15 (TOPMED)
                                          C=0.0002/1 (1000Genomes)
                                          C=0.000342/1 (KOREAN)
                                          T=0.359589/105 (HapMap)
                                          HGVS:

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