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Links from Nucleotide

Items: 1 to 20 of 642

1.

rs1490956005 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    A>- [Show Flanks]
    Chromosome:
    5:111730178 (GRCh38)
    5:111065875 (GRCh37)
    Canonical SPDI:
    NC_000005.10:111730177:A:
    Gene:
    NREP (Varview), STARD4-AS1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    -=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1490648625 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:111735447 (GRCh38)
      5:111071144 (GRCh37)
      Canonical SPDI:
      NC_000005.10:111735446:C:T
      Gene:
      NREP (Varview), STARD4-AS1 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:

      3.

      rs1490412289 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:111730992 (GRCh38)
        5:111066689 (GRCh37)
        Canonical SPDI:
        NC_000005.10:111730991:C:T
        Gene:
        NREP (Varview), STARD4-AS1 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000142/2 (ALFA)
        T=0./0 (KOREAN)
        T=0.000014/2 (GnomAD)
        T=0.000034/9 (TOPMED)
        HGVS:

        4.

        rs1490136672 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:111729453 (GRCh38)
          5:111065150 (GRCh37)
          Canonical SPDI:
          NC_000005.10:111729452:C:T
          Gene:
          NREP (Varview), STARD4-AS1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:

          5.

          rs1489860606 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AGA [Show Flanks]
            Chromosome:
            5:111730219 (GRCh38)
            5:111065917 (GRCh37)
            Canonical SPDI:
            NC_000005.10:111730219:GAAGA:GAAGAAGA
            Gene:
            NREP (Varview), STARD4-AS1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GAAGAAGA=0./0 (ALFA)
            GAA=0.000021/3 (GnomAD)
            GAA=0.000023/6 (TOPMED)
            HGVS:

            6.

            rs1489541588 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              5:111729717 (GRCh38)
              5:111065414 (GRCh37)
              Canonical SPDI:
              NC_000005.10:111729716:T:A
              Gene:
              NREP (Varview), STARD4-AS1 (Varview)
              Functional Consequence:
              3_prime_UTR_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:

              7.

              rs1489104614 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                5:111729612 (GRCh38)
                5:111065309 (GRCh37)
                Canonical SPDI:
                NC_000005.10:111729611:A:C
                Gene:
                NREP (Varview), STARD4-AS1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,non_coding_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.

                rs1488326792 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  5:111729523 (GRCh38)
                  5:111065220 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:111729522:G:A,NC_000005.10:111729522:G:T
                  Gene:
                  NREP (Varview), STARD4-AS1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000005.10:g.111729523G>A, NC_000005.10:g.111729523G>T, NC_000005.9:g.111065220G>A, NC_000005.9:g.111065220G>T, NM_004772.4:c.*1398C>T, NM_004772.4:c.*1398C>A, NM_004772.3:c.*1398C>T, NM_004772.3:c.*1398C>A, NM_004772.2:c.*1398C>T, NM_004772.2:c.*1398C>A, NM_001142475.2:c.*1398C>T, NM_001142475.2:c.*1398C>A, NM_001142475.1:c.*1398C>T, NM_001142475.1:c.*1398C>A, NM_001142474.2:c.*1398C>T, NM_001142474.2:c.*1398C>A, NM_001142474.1:c.*1398C>T, NM_001142474.1:c.*1398C>A, NM_001142478.2:c.*1398C>T, NM_001142478.2:c.*1398C>A, NM_001142478.1:c.*1398C>T, NM_001142478.1:c.*1398C>A, NR_040093.1:n.879G>A, NR_040093.1:n.879G>T, NM_001142483.1:c.*1398C>T, NM_001142483.1:c.*1398C>A, NM_001142476.1:c.*1398C>T, NM_001142476.1:c.*1398C>A, NM_001142479.1:c.*1398C>T, NM_001142479.1:c.*1398C>A, NM_001142480.1:c.*1398C>T, NM_001142480.1:c.*1398C>A, NM_001142477.1:c.*1398C>T, NM_001142477.1:c.*1398C>A, NM_001142482.1:c.*1398C>T, NM_001142482.1:c.*1398C>A, NM_001142481.1:c.*1398C>T, NM_001142481.1:c.*1398C>A

                  9.

                  rs1488090926 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:111730583 (GRCh38)
                    5:111066280 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:111730582:T:C
                    Gene:
                    NREP (Varview), STARD4-AS1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1486921971 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      5:111731001 (GRCh38)
                      5:111066698 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:111731000:C:A,NC_000005.10:111731000:C:T
                      Gene:
                      NREP (Varview), STARD4-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.111731001C>A, NC_000005.10:g.111731001C>T, NC_000005.9:g.111066698C>A, NC_000005.9:g.111066698C>T, NM_004772.4:c.127G>T, NM_004772.4:c.127G>A, NM_004772.3:c.127G>T, NM_004772.3:c.127G>A, NM_004772.2:c.127G>T, NM_004772.2:c.127G>A, NM_001142475.2:c.259G>T, NM_001142475.2:c.259G>A, NM_001142475.1:c.259G>T, NM_001142475.1:c.259G>A, NM_001142474.2:c.229G>T, NM_001142474.2:c.229G>A, NM_001142474.1:c.229G>T, NM_001142474.1:c.229G>A, NM_001142478.2:c.127G>T, NM_001142478.2:c.127G>A, NM_001142478.1:c.127G>T, NM_001142478.1:c.127G>A, NM_001142483.1:c.127G>T, NM_001142483.1:c.127G>A, NM_001142476.1:c.127G>T, NM_001142476.1:c.127G>A, NM_001142479.1:c.127G>T, NM_001142479.1:c.127G>A, NM_001142480.1:c.127G>T, NM_001142480.1:c.127G>A, NM_001142477.1:c.127G>T, NM_001142477.1:c.127G>A, NM_001142482.1:c.127G>T, NM_001142482.1:c.127G>A, NM_001142481.1:c.127G>T, NM_001142481.1:c.127G>A, NP_004763.1:p.Glu43Ter, NP_004763.1:p.Glu43Lys, NP_001135947.1:p.Glu87Ter, NP_001135947.1:p.Glu87Lys, NP_001135946.1:p.Glu77Ter, NP_001135946.1:p.Glu77Lys, NP_001135950.1:p.Glu43Ter, NP_001135950.1:p.Glu43Lys, NP_001135955.1:p.Glu43Ter, NP_001135955.1:p.Glu43Lys, NP_001135948.1:p.Glu43Ter, NP_001135948.1:p.Glu43Lys, NP_001135951.1:p.Glu43Ter, NP_001135951.1:p.Glu43Lys, NP_001135952.1:p.Glu43Ter, NP_001135952.1:p.Glu43Lys, NP_001135949.1:p.Glu43Ter, NP_001135949.1:p.Glu43Lys, NP_001135954.1:p.Glu43Ter, NP_001135954.1:p.Glu43Lys, NP_001135953.1:p.Glu43Ter, NP_001135953.1:p.Glu43Lys

                      11.

                      rs1486646089 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:111730435 (GRCh38)
                        5:111066132 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:111730434:A:G
                        Gene:
                        NREP (Varview), STARD4-AS1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000023/6 (TOPMED)
                        HGVS:

                        12.

                        rs1485887200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          5:111729488 (GRCh38)
                          5:111065185 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:111729487:C:A,NC_000005.10:111729487:C:G
                          Gene:
                          NREP (Varview), STARD4-AS1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          NC_000005.10:g.111729488C>A, NC_000005.10:g.111729488C>G, NC_000005.9:g.111065185C>A, NC_000005.9:g.111065185C>G, NM_004772.4:c.*1433G>T, NM_004772.4:c.*1433G>C, NM_004772.3:c.*1433G>T, NM_004772.3:c.*1433G>C, NM_004772.2:c.*1433G>T, NM_004772.2:c.*1433G>C, NM_001142475.2:c.*1433G>T, NM_001142475.2:c.*1433G>C, NM_001142475.1:c.*1433G>T, NM_001142475.1:c.*1433G>C, NM_001142474.2:c.*1433G>T, NM_001142474.2:c.*1433G>C, NM_001142474.1:c.*1433G>T, NM_001142474.1:c.*1433G>C, NM_001142478.2:c.*1433G>T, NM_001142478.2:c.*1433G>C, NM_001142478.1:c.*1433G>T, NM_001142478.1:c.*1433G>C, NM_001142483.1:c.*1433G>T, NM_001142483.1:c.*1433G>C, NM_001142476.1:c.*1433G>T, NM_001142476.1:c.*1433G>C, NM_001142479.1:c.*1433G>T, NM_001142479.1:c.*1433G>C, NM_001142480.1:c.*1433G>T, NM_001142480.1:c.*1433G>C, NM_001142477.1:c.*1433G>T, NM_001142477.1:c.*1433G>C, NM_001142482.1:c.*1433G>T, NM_001142482.1:c.*1433G>C, NM_001142481.1:c.*1433G>T, NM_001142481.1:c.*1433G>C

                          13.

                          rs1484842971 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            5:111730899 (GRCh38)
                            5:111066596 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:111730898:A:C
                            Gene:
                            NREP (Varview), STARD4-AS1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1484476632 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:111729968 (GRCh38)
                              5:111065665 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:111729967:T:C
                              Gene:
                              NREP (Varview), STARD4-AS1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              C=0.000029/4 (GnomAD)
                              HGVS:

                              15.

                              rs1484245418 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:111729424 (GRCh38)
                                5:111065121 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:111729423:T:C
                                Gene:
                                NREP (Varview), STARD4-AS1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                C=0.000036/5 (GnomAD)
                                HGVS:

                                16.

                                rs1483975497 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  5:111729629 (GRCh38)
                                  5:111065326 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:111729628:C:A,NC_000005.10:111729628:C:G
                                  Gene:
                                  NREP (Varview), STARD4-AS1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000005.10:g.111729629C>A, NC_000005.10:g.111729629C>G, NC_000005.9:g.111065326C>A, NC_000005.9:g.111065326C>G, NM_004772.4:c.*1292G>T, NM_004772.4:c.*1292G>C, NM_004772.3:c.*1292G>T, NM_004772.3:c.*1292G>C, NM_004772.2:c.*1292G>T, NM_004772.2:c.*1292G>C, NM_001142475.2:c.*1292G>T, NM_001142475.2:c.*1292G>C, NM_001142475.1:c.*1292G>T, NM_001142475.1:c.*1292G>C, NM_001142474.2:c.*1292G>T, NM_001142474.2:c.*1292G>C, NM_001142474.1:c.*1292G>T, NM_001142474.1:c.*1292G>C, NM_001142478.2:c.*1292G>T, NM_001142478.2:c.*1292G>C, NM_001142478.1:c.*1292G>T, NM_001142478.1:c.*1292G>C, NR_040093.1:n.985C>A, NR_040093.1:n.985C>G, NM_001142483.1:c.*1292G>T, NM_001142483.1:c.*1292G>C, NM_001142476.1:c.*1292G>T, NM_001142476.1:c.*1292G>C, NM_001142479.1:c.*1292G>T, NM_001142479.1:c.*1292G>C, NM_001142480.1:c.*1292G>T, NM_001142480.1:c.*1292G>C, NM_001142477.1:c.*1292G>T, NM_001142477.1:c.*1292G>C, NM_001142482.1:c.*1292G>T, NM_001142482.1:c.*1292G>C, NM_001142481.1:c.*1292G>T, NM_001142481.1:c.*1292G>C

                                  17.

                                  rs1482223623 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    5:111757505 (GRCh38)
                                    5:111093202 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:111757504:A:G
                                    Gene:
                                    NREP (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1482060030 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TGTT>- [Show Flanks]
                                      Chromosome:
                                      5:111730514 (GRCh38)
                                      5:111066211 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:111730510:GTTTGTT:GTT
                                      Gene:
                                      NREP (Varview), STARD4-AS1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GTT=0./0 (ALFA)
                                      -=0.000015/2 (GnomAD)
                                      -=0.000019/5 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1481398014 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GTTTGAGTTGTGGAAGA>- [Show Flanks]
                                        Chromosome:
                                        5:111730630 (GRCh38)
                                        5:111066327 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:111730627:GAGTTTGAGTTGTGGAAGA:GA
                                        Gene:
                                        NREP (Varview), STARD4-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1481069548 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          5:111730498 (GRCh38)
                                          5:111066195 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:111730497:C:A
                                          Gene:
                                          NREP (Varview), STARD4-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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