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Links from Nucleotide

Items: 1 to 20 of 1854

1.

rs1490788687 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:102605711 (GRCh38)
    X:101860639 (GRCh37)
    Canonical SPDI:
    NC_000023.11:102605710:G:A
    Gene:
    ARMCX5-GPRASP2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    HGVS:
    2.

    rs1490662118 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:102602850 (GRCh38)
      X:101857778 (GRCh37)
      Canonical SPDI:
      NC_000023.11:102602849:G:A
      Gene:
      ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.00001/1 (GnomAD)
      A=0.000019/5 (TOPMED)
      HGVS:
      3.

      rs1490144408 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        X:102603949 (GRCh38)
        X:101858877 (GRCh37)
        Canonical SPDI:
        NC_000023.11:102603948:A:T
        Gene:
        ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1490118702 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:102602068 (GRCh38)
          X:101856996 (GRCh37)
          Canonical SPDI:
          NC_000023.11:102602067:C:T
          Gene:
          ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000214/3 (ALFA)
          T=0.00001/1 (GnomAD)
          T=0.000038/10 (TOPMED)
          HGVS:
          5.

          rs1489460524 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:102601222 (GRCh38)
            X:101856150 (GRCh37)
            Canonical SPDI:
            NC_000023.11:102601221:T:C
            Gene:
            ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.00001/1 (GnomAD)
            C=0.000045/1 (TOMMO)
            HGVS:
            6.

            rs1489389382 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:102602576 (GRCh38)
              X:101857504 (GRCh37)
              Canonical SPDI:
              NC_000023.11:102602575:T:C
              Gene:
              ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000019/2 (GnomAD)
              HGVS:
              7.
              8.

              rs1488482145 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:102600390 (GRCh38)
                X:101855318 (GRCh37)
                Canonical SPDI:
                NC_000023.11:102600389:G:A
                Gene:
                ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.00001/1 (GnomAD)
                HGVS:
                9.

                rs1488341456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:102599436 (GRCh38)
                  X:101854364 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:102599435:A:G
                  Gene:
                  ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1488246856 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    X:102605826 (GRCh38)
                    X:101860754 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:102605825:C:G
                    Gene:
                    ARMCX5-GPRASP2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1487857252 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      X:102599353 (GRCh38)
                      X:101854281 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:102599352:T:G
                      Gene:
                      ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.00001/1 (GnomAD)
                      HGVS:
                      12.
                      13.

                      rs1487350442 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:102598961 (GRCh38)
                        X:101853889 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:102598960:C:T
                        Gene:
                        ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.00001/1 (GnomAD)
                        HGVS:
                        14.

                        rs1486425857 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:102597472 (GRCh38)
                          X:101852400 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:102597471:T:C
                          Gene:
                          ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000142/2 (ALFA)
                          C=0.00001/1 (GnomAD)
                          HGVS:
                          15.

                          rs1486358510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:102596521 (GRCh38)
                            X:101851449 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:102596520:C:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            16.

                            rs1486111547 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              X:102602266 (GRCh38)
                              X:101857194 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:102602265:C:A,NC_000023.11:102602265:C:T
                              Gene:
                              ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.00001/1 (GnomAD)
                              A=0.00009/1 (TOMMO)
                              HGVS:
                              NC_000023.11:g.102602266C>A, NC_000023.11:g.102602266C>T, NC_000023.10:g.101857194C>A, NC_000023.10:g.101857194C>T, NG_016347.1:g.8099C>A, NG_016347.1:g.8099C>T, NM_022838.4:c.125C>A, NM_022838.4:c.125C>T, NM_022838.3:c.125C>A, NM_022838.3:c.125C>T, NM_001168479.2:c.125C>A, NM_001168479.2:c.125C>T, NM_001168479.1:c.125C>A, NM_001168479.1:c.125C>T, NM_001168480.2:c.125C>A, NM_001168480.2:c.125C>T, NM_001168480.1:c.125C>A, NM_001168480.1:c.125C>T, NM_001168478.2:c.125C>A, NM_001168478.2:c.125C>T, NM_001168478.1:c.125C>A, NM_001168478.1:c.125C>T, NM_001168485.2:c.125C>A, NM_001168485.2:c.125C>T, NM_001168485.1:c.125C>A, NM_001168485.1:c.125C>T, NM_001168482.2:c.125C>A, NM_001168482.2:c.125C>T, NM_001168482.1:c.125C>A, NM_001168482.1:c.125C>T, NP_073749.2:p.Ala42Glu, NP_073749.2:p.Ala42Val, NP_001161951.1:p.Ala42Glu, NP_001161951.1:p.Ala42Val, NP_001161952.1:p.Ala42Glu, NP_001161952.1:p.Ala42Val, NP_001161950.1:p.Ala42Glu, NP_001161950.1:p.Ala42Val, NP_001161957.1:p.Ala42Glu, NP_001161957.1:p.Ala42Val, NP_001161954.1:p.Ala42Glu, NP_001161954.1:p.Ala42Val
                              17.

                              rs1486093039 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CAA>- [Show Flanks]
                                Chromosome:
                                X:102598738 (GRCh38)
                                X:101853666 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:102598735:AACAA:AA
                                Gene:
                                ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AA=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.00001/1 (GnomAD)
                                HGVS:
                                18.

                                rs1486019119 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:102596361 (GRCh38)
                                  X:101851289 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:102596360:G:A
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1485382167 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:102595827 (GRCh38)
                                    X:101850755 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:102595826:G:A
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1484143937 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      X:102600631 (GRCh38)
                                      X:101855559 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:102600630:CCCC:CCC
                                      Gene:
                                      ARMCX5 (Varview), ARMCX5-GPRASP2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCC=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.00001/1 (GnomAD)
                                      HGVS:

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