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Items: 1 to 20 of 4119

1.

rs1491480749 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    4:3253153 (GRCh38)
    4:3254880 (GRCh37)
    Canonical SPDI:
    NC_000004.12:3253152:AG:
    Gene:
    MSANTD1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.000071/1 (ALFA)
    -=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1491433633 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      4:3253153 (GRCh38)
      4:3254881 (GRCh37)
      Canonical SPDI:
      NC_000004.12:3253153:GGGG:GGGGG
      Gene:
      MSANTD1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GGGGG=0./0 (ALFA)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1491014504 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        4:3251687 (GRCh38)
        4:3253414 (GRCh37)
        Canonical SPDI:
        NC_000004.12:3251685:TCT:T
        Gene:
        MSANTD1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        -=0.000015/2 (GnomAD)
        HGVS:
        4.

        rs1490920112 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:3245242 (GRCh38)
          4:3246969 (GRCh37)
          Canonical SPDI:
          NC_000004.12:3245241:C:T
          Gene:
          MSANTD1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490887698 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:3243670 (GRCh38)
            4:3245397 (GRCh37)
            Canonical SPDI:
            NC_000004.12:3243669:C:T
            Gene:
            HTT (Varview), MSANTD1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490851522 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:3245781 (GRCh38)
              4:3247508 (GRCh37)
              Canonical SPDI:
              NC_000004.12:3245780:G:A
              Gene:
              MSANTD1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000043/6 (GnomAD)
              HGVS:
              7.

              rs1490783075 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:3244307 (GRCh38)
                4:3246034 (GRCh37)
                Canonical SPDI:
                NC_000004.12:3244306:T:C
                Gene:
                HTT (Varview), MSANTD1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_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.

                rs1490447244 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:3252183 (GRCh38)
                  4:3253910 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:3252182:G:A
                  Gene:
                  MSANTD1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490359317 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    4:3250548 (GRCh38)
                    4:3252275 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:3250547:GGGG:GGG
                    Gene:
                    MSANTD1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490284136 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:3252764 (GRCh38)
                      4:3254491 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:3252763:T:C
                      Gene:
                      MSANTD1 (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1489915758 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:3246817 (GRCh38)
                        4:3248544 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:3246816:G:A
                        Gene:
                        MSANTD1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489872648 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:3247454 (GRCh38)
                          4:3249181 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:3247453:C:T
                          Gene:
                          MSANTD1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1489574108 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:3246090 (GRCh38)
                            4:3247817 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:3246089:C:T
                            Gene:
                            MSANTD1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489193237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              4:3252058 (GRCh38)
                              4:3253785 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:3252057:C:T
                              Gene:
                              MSANTD1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489094829 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:3254067 (GRCh38)
                                4:3255794 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:3254066:A:G
                                Gene:
                                MSANTD1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489020396 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  4:3244746 (GRCh38)
                                  4:3246473 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:3244745:A:T
                                  Gene:
                                  MSANTD1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488867798 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    4:3252606 (GRCh38)
                                    4:3254333 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:3252605:A:
                                    Gene:
                                    MSANTD1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488647929 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:3253330 (GRCh38)
                                      4:3255057 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:3253329:G:A
                                      Gene:
                                      MSANTD1 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000111/1 (ALFA)
                                      A=0.000008/2 (GnomAD_exomes)
                                      A=0.000142/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1488590082 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:3246710 (GRCh38)
                                        4:3248437 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:3246709:C:T
                                        Gene:
                                        MSANTD1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000017/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488240677 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          4:3250002 (GRCh38)
                                          4:3251729 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:3250001:G:A
                                          Gene:
                                          MSANTD1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000023/6 (TOPMED)
                                          A=0.000156/1 (1000Genomes)
                                          A=0.000271/38 (GnomAD)
                                          HGVS:

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