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Links from Nucleotide

Items: 1 to 20 of 281

1.

rs1488715263 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:159790963 (GRCh38)
    6:160211995 (GRCh37)
    Canonical SPDI:
    NC_000006.12:159790962:A:G
    Gene:
    TCP1 (Varview), MRPL18 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1486016372 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:159798429 (GRCh38)
      6:160219461 (GRCh37)
      Canonical SPDI:
      NC_000006.12:159798428:A:G
      Gene:
      MRPL18 (Varview), PNLDC1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1484270024 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:159790057 (GRCh38)
        6:160211089 (GRCh37)
        Canonical SPDI:
        NC_000006.12:159790056:G:A
        Gene:
        TCP1 (Varview), MRPL18 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1483633398 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          6:159789999 (GRCh38)
          6:160211031 (GRCh37)
          Canonical SPDI:
          NC_000006.12:159789998:T:A
          Gene:
          TCP1 (Varview), MRPL18 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1479736698 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            6:159798134 (GRCh38)
            6:160219166 (GRCh37)
            Canonical SPDI:
            NC_000006.12:159798133:T:G
            Gene:
            MRPL18 (Varview), PNLDC1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1479079218 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:159790974 (GRCh38)
              6:160212006 (GRCh37)
              Canonical SPDI:
              NC_000006.12:159790973:G:A
              Gene:
              TCP1 (Varview), MRPL18 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1473140664 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:159790052 (GRCh38)
                6:160211084 (GRCh37)
                Canonical SPDI:
                NC_000006.12:159790051:C:T
                Gene:
                TCP1 (Varview), MRPL18 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,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:
                8.

                rs1469933067 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  6:159789985 (GRCh38)
                  6:160211017 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:159789984:G:A,NC_000006.12:159789984:G:T
                  Gene:
                  TCP1 (Varview), MRPL18 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1468707982 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    6:159798086 (GRCh38)
                    6:160219118 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:159798085:G:C
                    Gene:
                    MRPL18 (Varview), PNLDC1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000111/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1462485603 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:159789975 (GRCh38)
                      6:160211007 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:159789974:G:A
                      Gene:
                      TCP1 (Varview), MRPL18 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1461396688 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        6:159798259 (GRCh38)
                        6:160219291 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:159798258:T:G
                        Gene:
                        MRPL18 (Varview), PNLDC1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1460072557 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:159798313 (GRCh38)
                          6:160219345 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:159798312:C:T
                          Gene:
                          MRPL18 (Varview), PNLDC1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,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:
                          13.

                          rs1457085061 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:159791053 (GRCh38)
                            6:160212085 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:159791052:C:T
                            Gene:
                            TCP1 (Varview), MRPL18 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1456975325 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:159790970 (GRCh38)
                              6:160212002 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:159790969:C:T
                              Gene:
                              TCP1 (Varview), MRPL18 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1450110686 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:159790971 (GRCh38)
                                6:160212003 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:159790970:C:T
                                Gene:
                                TCP1 (Varview), MRPL18 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000045/2 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1445137701 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  6:159790033 (GRCh38)
                                  6:160211065 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:159790032:G:A,NC_000006.12:159790032:G:T
                                  Gene:
                                  TCP1 (Varview), MRPL18 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1444453257 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:159791110 (GRCh38)
                                    6:160212142 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:159791109:C:T
                                    Gene:
                                    TCP1 (Varview), MRPL18 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1432914922 has merged into rs373035582 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      6:159798290 (GRCh38)
                                      6:160219323 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:159798290:AAA:AAAA
                                      Gene:
                                      MRPL18 (Varview), PNLDC1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAA=0.000214/3 (ALFA)
                                      A=0.000207/29 (GnomAD)
                                      A=0.00023/61 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1432171458 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:159798317 (GRCh38)
                                        6:160219349 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:159798316:T:C
                                        Gene:
                                        MRPL18 (Varview), PNLDC1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1427799727 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:159798078 (GRCh38)
                                          6:160219110 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:159798077:A:G
                                          Gene:
                                          MRPL18 (Varview), PNLDC1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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