Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 46

1.

rs781596486 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:127937494 (GRCh38)
    9:130699773 (GRCh37)
    Canonical SPDI:
    NC_000009.12:127937493:G:A
    Gene:
    DPM2 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000008/1 (ExAC)
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    2.

    rs780383976 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      9:127937517 (GRCh38)
      9:130699796 (GRCh37)
      Canonical SPDI:
      NC_000009.12:127937516:C:G
      Gene:
      DPM2 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000024/6 (GnomAD_exomes)
      G=0.000035/4 (ExAC)
      HGVS:
      3.

      rs779110103 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:127936605 (GRCh38)
        9:130698884 (GRCh37)
        Canonical SPDI:
        NC_000009.12:127936604:G:A
        Gene:
        DPM2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        A=0.000037/7 (GnomAD_exomes)
        A=0.000063/7 (ExAC)
        HGVS:
        4.

        rs779093563 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          9:127936603 (GRCh38)
          9:130698882 (GRCh37)
          Canonical SPDI:
          NC_000009.12:127936602:T:A,NC_000009.12:127936602:T:C
          Gene:
          DPM2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0./0 (ALSPAC)
          C=0.000009/1 (ExAC)
          C=0.00001/2 (GnomAD_exomes)
          C=0.000043/6 (GnomAD)
          C=0.00027/1 (TWINSUK)
          HGVS:
          5.

          rs778557558 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            9:127935729 (GRCh38)
            9:130698008 (GRCh37)
            Canonical SPDI:
            NC_000009.12:127935728:G:A,NC_000009.12:127935728:G:T
            Gene:
            DPM2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000008/1 (ExAC)
            HGVS:
            6.

            rs778216191 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:127936627 (GRCh38)
              9:130698906 (GRCh37)
              Canonical SPDI:
              NC_000009.12:127936626:T:C
              Gene:
              DPM2 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000006/1 (GnomAD_exomes)
              C=0.000009/1 (ExAC)
              HGVS:
              7.

              rs777078287 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                9:127936647 (GRCh38)
                9:130698926 (GRCh37)
                Canonical SPDI:
                NC_000009.12:127936646:G:A,NC_000009.12:127936646:G:T
                Gene:
                DPM2 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000132/3 (ALFA)
                A=0.000057/8 (GnomAD)
                A=0.00006/16 (TOPMED)
                HGVS:
                8.

                rs776591740 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:127935765 (GRCh38)
                  9:130698044 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:127935764:T:C
                  Gene:
                  DPM2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.00004/10 (GnomAD_exomes)
                  C=0.000042/5 (ExAC)
                  C=0.000119/2 (TOMMO)
                  C=0.000546/1 (Korea1K)
                  C=0.001369/4 (KOREAN)
                  HGVS:
                  9.

                  rs774687931 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:127935741 (GRCh38)
                    9:130698020 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:127935740:A:G
                    Gene:
                    DPM2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0./0 (ALSPAC)
                    G=0.0003/1 (TWINSUK)
                    HGVS:
                    10.

                    rs771463310 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      9:127936642 (GRCh38)
                      9:130698921 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:127936641:C:G,NC_000009.12:127936641:C:T
                      Gene:
                      DPM2 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000006/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      T=0.000009/1 (ExAC)
                      HGVS:
                      11.

                      rs768733587 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:127936596 (GRCh38)
                        9:130698875 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:127936595:G:A
                        Gene:
                        DPM2 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0./0 (TWINSUK)
                        A=0.000014/2 (GnomAD)
                        A=0.000015/3 (GnomAD_exomes)
                        A=0.000027/3 (ExAC)
                        A=0.00003/8 (TOPMED)
                        A=0.000259/1 (ALSPAC)
                        HGVS:
                        12.

                        rs767415669 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:127936587 (GRCh38)
                          9:130698866 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:127936586:T:C
                          Gene:
                          DPM2 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0./0 (GnomAD)
                          C=0.000014/3 (GnomAD_exomes)
                          C=0.000018/2 (ExAC)
                          HGVS:
                          13.

                          rs766817693 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            9:127936565 (GRCh38)
                            9:130698844 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:127936564:G:C
                            Gene:
                            DPM2 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000009/1 (ExAC)
                            C=0.000013/3 (GnomAD_exomes)
                            C=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs765019784 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:127937460 (GRCh38)
                              9:130699739 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:127937459:A:G
                              Gene:
                              DPM2 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/1 (ExAC)
                              HGVS:
                              15.

                              rs764215944 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                9:127937462 (GRCh38)
                                9:130699741 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:127937461:G:A,NC_000009.12:127937461:G:C
                                Gene:
                                DPM2 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000108/2 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000008/1 (ExAC)
                                A=0.000026/7 (TOPMED)
                                A=0.000446/2 (Estonian)
                                HGVS:
                                16.

                                rs763758658 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:127936582 (GRCh38)
                                  9:130698861 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:127936581:G:A
                                  Gene:
                                  DPM2 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000009/2 (GnomAD_exomes)
                                  A=0.000018/2 (ExAC)
                                  HGVS:
                                  17.

                                  rs759601734 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:127937436 (GRCh38)
                                    9:130699715 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:127937435:A:G
                                    Gene:
                                    DPM2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000008/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs759597928 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      9:127935769 (GRCh38)
                                      9:130698048 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:127935768:A:C
                                      Gene:
                                      DPM2 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000028/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000016/4 (GnomAD_exomes)
                                      C=0.000025/3 (ExAC)
                                      HGVS:
                                      19.

                                      rs757467123 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        9:127937488 (GRCh38)
                                        9:130699767 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:127937487:G:A,NC_000009.12:127937487:G:C
                                        Gene:
                                        DPM2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000012/3 (GnomAD_exomes)
                                        C=0.000017/2 (ExAC)
                                        C=0.000038/10 (TOPMED)
                                        C=0.000043/6 (GnomAD)
                                        HGVS:
                                        20.

                                        rs756881158 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ACTG>- [Show Flanks]
                                          Chromosome:
                                          9:127936641 (GRCh38)
                                          9:130698920 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:127936637:CTGACTG:CTG
                                          Gene:
                                          DPM2 (Varview)
                                          Functional Consequence:
                                          frameshift_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          -=0.000017/3 (GnomAD_exomes)
                                          -=0.000027/3 (ExAC)
                                          -=0.00008/1 (GoESP)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...
                                          Support Center