U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 374

1.

rs1490423794 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:27954417 (GRCh38)
    1:28280928 (GRCh37)
    Canonical SPDI:
    NC_000001.11:27954416:C:T
    Gene:
    SMPDL3B (Varview)
    Functional Consequence:
    missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489004171 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:27953230 (GRCh38)
      1:28279741 (GRCh37)
      Canonical SPDI:
      NC_000001.11:27953229:C:T
      Gene:
      SMPDL3B (Varview)
      Functional Consequence:
      missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1487596178 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:27945415 (GRCh38)
        1:28271926 (GRCh37)
        Canonical SPDI:
        NC_000001.11:27945414:A:G
        Gene:
        SMPDL3B (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1486546851 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:27956047 (GRCh38)
          1:28282558 (GRCh37)
          Canonical SPDI:
          NC_000001.11:27956046:G:A
          Gene:
          SMPDL3B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1486412754 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:27956101 (GRCh38)
            1:28282612 (GRCh37)
            Canonical SPDI:
            NC_000001.11:27956100:G:A
            Gene:
            SMPDL3B (Varview)
            Functional Consequence:
            intron_variant,missense_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)
            HGVS:
            6.

            rs1481676470 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:27955742 (GRCh38)
              1:28282253 (GRCh37)
              Canonical SPDI:
              NC_000001.11:27955741:G:T
              Gene:
              SMPDL3B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1476929223 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:27954440 (GRCh38)
                1:28280951 (GRCh37)
                Canonical SPDI:
                NC_000001.11:27954439:G:A
                Gene:
                SMPDL3B (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1464653798 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:27945235 (GRCh38)
                  1:28271746 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:27945234:A:G
                  Gene:
                  SMPDL3B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1460763535 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    1:27956182 (GRCh38)
                    1:28282693 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27956181:G:A,NC_000001.11:27956181:G:T
                    Gene:
                    SMPDL3B (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,stop_gained,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1460242277 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      1:27955739 (GRCh38)
                      1:28282250 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:27955738:C:A
                      Gene:
                      SMPDL3B (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1454584382 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TC [Show Flanks]
                        Chromosome:
                        1:27945365 (GRCh38)
                        1:28271877 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:27945365:TCTC:TCTCTC
                        Gene:
                        SMPDL3B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TCTCTC=0./0 (ALFA)
                        TC=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1454116783 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:27945403 (GRCh38)
                          1:28271914 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:27945402:T:C
                          Gene:
                          SMPDL3B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1451557612 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            1:27956028 (GRCh38)
                            1:28282540 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:27956028:AA:AAA
                            Gene:
                            SMPDL3B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AAA=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1447601663 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:27953253 (GRCh38)
                              1:28279764 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:27953252:C:T
                              Gene:
                              SMPDL3B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              15.
                              16.

                              rs1442152429 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:27956198 (GRCh38)
                                1:28282709 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:27956197:G:A
                                Gene:
                                SMPDL3B (Varview)
                                Functional Consequence:
                                terminator_codon_variant,synonymous_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1439609985 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:27945337 (GRCh38)
                                  1:28271848 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:27945336:C:G
                                  Gene:
                                  SMPDL3B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1435417062 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:27954445 (GRCh38)
                                    1:28280956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:27954444:G:A
                                    Gene:
                                    SMPDL3B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    19.
                                    20.

                                    rs1434175591 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      1:27953341 (GRCh38)
                                      1:28279852 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:27953340:T:A
                                      Gene:
                                      SMPDL3B (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000111/1 (ALFA)
                                      A=0.00002/5 (GnomAD_exomes)
                                      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...