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Items: 1 to 20 of 333

1.

rs1489533252 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:81930114 (GRCh38)
    9:84545029 (GRCh37)
    Canonical SPDI:
    NC_000009.12:81930113:C:T
    Gene:
    SPATA31D4 (Varview), LOC105376108 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.00067/8 (ALFA)
    T=0.00012/2 (GnomAD_exomes)
    T=0.00141/9 (1000Genomes)
    T=0.00173/12 (GnomAD)
    HGVS:
    2.

    rs1489399998 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      9:81930160 (GRCh38)
      9:84545075 (GRCh37)
      Canonical SPDI:
      NC_000009.12:81930159:G:C
      Gene:
      SPATA31D4 (Varview), LOC105376108 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.00006/1 (GnomAD)
      HGVS:
      3.

      rs1488944471 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        9:81932548 (GRCh38)
        9:84547463 (GRCh37)
        Canonical SPDI:
        NC_000009.12:81932547:C:A
        Gene:
        SPATA31D4 (Varview), LOC105376108 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1488656598 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          9:81932115 (GRCh38)
          9:84547030 (GRCh37)
          Canonical SPDI:
          NC_000009.12:81932114:C:A
          Gene:
          SPATA31D4 (Varview), LOC105376108 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1486555718 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:81932575 (GRCh38)
            9:84547490 (GRCh37)
            Canonical SPDI:
            NC_000009.12:81932574:A:G
            Gene:
            SPATA31D4 (Varview), LOC105376108 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000009/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1483345817 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:81932581 (GRCh38)
              9:84547496 (GRCh37)
              Canonical SPDI:
              NC_000009.12:81932580:T:C
              Gene:
              SPATA31D4 (Varview), LOC105376108 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
              HGVS:
              7.

              rs1479729160 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:81932645 (GRCh38)
                9:84547560 (GRCh37)
                Canonical SPDI:
                NC_000009.12:81932644:A:G
                Gene:
                SPATA31D4 (Varview), LOC105376108 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1476062630 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  9:81932541 (GRCh38)
                  9:84547456 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:81932540:C:G
                  Gene:
                  SPATA31D4 (Varview), LOC105376108 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1475321769 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:81932000 (GRCh38)
                    9:84546915 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:81931999:T:C
                    Gene:
                    SPATA31D4 (Varview), LOC105376108 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                    HGVS:
                    10.

                    rs1474424626 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:81932233 (GRCh38)
                      9:84547148 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:81932232:G:A
                      Gene:
                      SPATA31D4 (Varview), LOC105376108 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.00002/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1473829021 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        9:81932243 (GRCh38)
                        9:84547158 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:81932242:G:T
                        Gene:
                        SPATA31D4 (Varview), LOC105376108 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00003/1 (GnomAD)
                        T=0.00004/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1472847919 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:81932547 (GRCh38)
                          9:84547462 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:81932546:T:C
                          Gene:
                          SPATA31D4 (Varview), LOC105376108 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000008/1 (GnomAD)
                          C=0.000009/2 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1471346369 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:81932462 (GRCh38)
                            9:84547377 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:81932461:G:T
                            Gene:
                            SPATA31D4 (Varview), LOC105376108 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000009/1 (GnomAD)
                            HGVS:
                            14.

                            rs1470859583 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:81932806 (GRCh38)
                              9:84547721 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:81932805:G:A
                              Gene:
                              SPATA31D4 (Varview), LOC105376108 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1470589893 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                9:81932481 (GRCh38)
                                9:84547396 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:81932480:C:G
                                Gene:
                                SPATA31D4 (Varview), LOC105376108 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000009/1 (GnomAD)
                                HGVS:
                                16.

                                rs1469872321 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:81932699 (GRCh38)
                                  9:84547614 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:81932698:T:G
                                  Gene:
                                  SPATA31D4 (Varview), LOC105376108 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000084/1 (ALFA)
                                  G=0.00004/5 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1468535707 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:81932914 (GRCh38)
                                    9:84547829 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:81932913:G:A
                                    Gene:
                                    SPATA31D4 (Varview), LOC105376108 (Varview)
                                    Functional Consequence:
                                    terminator_codon_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1467630250 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      9:81932488 (GRCh38)
                                      9:84547403 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:81932487:C:G,NC_000009.12:81932487:C:T
                                      Gene:
                                      SPATA31D4 (Varview), LOC105376108 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1466353395 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        9:81932628 (GRCh38)
                                        9:84547543 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:81932627:C:A,NC_000009.12:81932627:C:T
                                        Gene:
                                        SPATA31D4 (Varview), LOC105376108 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        A=0.000008/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1465390109 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TA>- [Show Flanks]
                                          Chromosome:
                                          9:81931973 (GRCh38)
                                          9:84546888 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:81931971:ATA:A
                                          Gene:
                                          SPATA31D4 (Varview), LOC105376108 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.00005/1 (GnomAD_exomes)
                                          HGVS:

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