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Links from Nucleotide

Items: 1 to 20 of 290

1.

rs1488473999 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:5136770 (GRCh38)
    6:5137004 (GRCh37)
    Canonical SPDI:
    NC_000006.12:5136769:C:T
    Gene:
    LYRM4 (Varview), LYRM4-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487102699 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:5260942 (GRCh38)
      6:5261175 (GRCh37)
      Canonical SPDI:
      NC_000006.12:5260941:G:A
      Gene:
      FARS2 (Varview), LYRM4 (Varview)
      Functional Consequence:
      upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_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:
      3.

      rs1478093531 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:5136692 (GRCh38)
        6:5136926 (GRCh37)
        Canonical SPDI:
        NC_000006.12:5136691:T:C
        Gene:
        LYRM4 (Varview), LYRM4-AS1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1476026784 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:5138735 (GRCh38)
          6:5138969 (GRCh37)
          Canonical SPDI:
          NC_000006.12:5138734:T:C
          Gene:
          LYRM4 (Varview), LYRM4-AS1 (Varview)
          Functional Consequence:
          synonymous_variant,terminator_codon_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000019/5 (TOPMED)
          C=0.000023/3 (GnomAD_exomes)
          HGVS:
          5.

          rs1474870855 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:5136745 (GRCh38)
            6:5136979 (GRCh37)
            Canonical SPDI:
            NC_000006.12:5136744:T:C
            Gene:
            LYRM4 (Varview), LYRM4-AS1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1468633780 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:5136417 (GRCh38)
              6:5136651 (GRCh37)
              Canonical SPDI:
              NC_000006.12:5136416:G:A
              Gene:
              LYRM4 (Varview), LYRM4-AS1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1466858063 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:5260716 (GRCh38)
                6:5260949 (GRCh37)
                Canonical SPDI:
                NC_000006.12:5260715:G:A
                Gene:
                FARS2 (Varview), LYRM4 (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000006/1 (GnomAD_exomes)
                A=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1459849736 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  6:5136305 (GRCh38)
                  6:5136539 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:5136304:A:T
                  Gene:
                  LYRM4 (Varview), LYRM4-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1459689476 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:5136442 (GRCh38)
                    6:5136676 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:5136441:T:C
                    Gene:
                    LYRM4 (Varview), LYRM4-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000019/5 (TOPMED)
                    C=0.000156/1 (1000Genomes)
                    C=0.00046/8 (TOMMO)
                    C=0.003765/11 (KOREAN)
                    T=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1459161757 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      6:5260770 (GRCh38)
                      6:5261003 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:5260769:C:G,NC_000006.12:5260769:C:T
                      Gene:
                      FARS2 (Varview), LYRM4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0./0 (GnomAD)
                      G=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.5260770C>G, NC_000006.12:g.5260770C>T, NC_000006.11:g.5261003C>G, NC_000006.11:g.5261003C>T, NG_033003.2:g.4420C>G, NG_033003.2:g.4420C>T, NG_051651.1:g.5181G>C, NG_051651.1:g.5181G>A, NM_020408.6:c.-37G>C, NM_020408.6:c.-37G>A, NM_020408.5:c.-37G>C, NM_020408.5:c.-37G>A, NM_020408.4:c.-37G>C, NM_020408.4:c.-37G>A, NM_001164841.3:c.-37G>C, NM_001164841.3:c.-37G>A, NM_001164841.2:c.-37G>C, NM_001164841.2:c.-37G>A, NM_001164841.1:c.-37G>C, NM_001164841.1:c.-37G>A, NM_001164840.3:c.-37G>C, NM_001164840.3:c.-37G>A, NM_001164840.2:c.-37G>C, NM_001164840.2:c.-37G>A, NM_001164840.1:c.-37G>C, NM_001164840.1:c.-37G>A, NR_104417.2:n.181G>C, NR_104417.2:n.181G>A, NR_104417.1:n.181G>C, NR_104417.1:n.181G>A, NR_104418.1:n.181G>C, NR_104418.1:n.181G>A, NM_001318782.1:c.-37G>C, NM_001318782.1:c.-37G>A, NR_134856.1:n.181G>C, NR_134856.1:n.181G>A, NM_001318783.1:c.-37G>C, NM_001318783.1:c.-37G>A, XM_017011084.3:c.-37G>C, XM_017011084.3:c.-37G>A, XM_017011084.1:c.-37G>C, XM_017011084.1:c.-37G>A, XM_017011083.3:c.-37G>C, XM_017011083.3:c.-37G>A, XM_017011083.1:c.-37G>C, XM_017011083.1:c.-37G>A
                      11.

                      rs1458787676 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:5136556 (GRCh38)
                        6:5136790 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:5136555:T:C
                        Gene:
                        LYRM4 (Varview), LYRM4-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1454088040 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TAAA>- [Show Flanks]
                          Chromosome:
                          6:5260752 (GRCh38)
                          6:5260985 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:5260748:AAATAAA:AAA
                          Gene:
                          FARS2 (Varview), LYRM4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAA=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1451938668 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            6:5136504 (GRCh38)
                            6:5136739 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:5136504:T:TT
                            Gene:
                            LYRM4 (Varview), LYRM4-AS1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TT=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1448937307 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              6:5136393 (GRCh38)
                              6:5136627 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:5136392:C:G,NC_000006.12:5136392:C:T
                              Gene:
                              LYRM4 (Varview), LYRM4-AS1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1446109351 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:5136575 (GRCh38)
                                6:5136809 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:5136574:C:T
                                Gene:
                                LYRM4 (Varview), LYRM4-AS1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1442136561 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  6:5136434 (GRCh38)
                                  6:5136668 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:5136433:A:C
                                  Gene:
                                  LYRM4 (Varview), LYRM4-AS1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1441376546 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:5260830 (GRCh38)
                                    6:5261063 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:5260829:A:G
                                    Gene:
                                    FARS2 (Varview), LYRM4 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1437952716 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:5138713 (GRCh38)
                                      6:5138947 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:5138712:G:A
                                      Gene:
                                      LYRM4 (Varview), LYRM4-AS1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000008/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1434941075 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:5136852 (GRCh38)
                                        6:5137086 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:5136851:C:T
                                        Gene:
                                        LYRM4 (Varview), LYRM4-AS1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1434223246 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:5260758 (GRCh38)
                                          6:5260991 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:5260757:G:A
                                          Gene:
                                          FARS2 (Varview), LYRM4 (Varview)
                                          Functional Consequence:
                                          intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000014/2 (GnomAD_exomes)
                                          HGVS:

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