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Items: 1 to 20 of 269

1.

rs1483753353 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    22:26599556 (GRCh38)
    22:26995520 (GRCh37)
    Canonical SPDI:
    NC_000022.11:26599555:G:A
    Gene:
    CRYBA4 (Varview), CRYBB1 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_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:
    2.

    rs1478845189 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      22:26601986 (GRCh38)
      22:26997950 (GRCh37)
      Canonical SPDI:
      NC_000022.11:26601985:C:G
      Gene:
      CRYBA4 (Varview), CRYBB1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1478625681 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        22:26612186 (GRCh38)
        22:27008150 (GRCh37)
        Canonical SPDI:
        NC_000022.11:26612185:A:C
        Gene:
        CRYBA4 (Varview), CRYBB1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1474446013 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          22:26607960 (GRCh38)
          22:27003924 (GRCh37)
          Canonical SPDI:
          NC_000022.11:26607959:A:T
          Gene:
          CRYBA4 (Varview), CRYBB1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1469587987 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            22:26616250 (GRCh38)
            22:27012214 (GRCh37)
            Canonical SPDI:
            NC_000022.11:26616249:T:A
            Gene:
            CRYBA4 (Varview), CRYBB1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1468001091 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:26599555 (GRCh38)
              22:26995519 (GRCh37)
              Canonical SPDI:
              NC_000022.11:26599554:G:C
              Gene:
              CRYBA4 (Varview), CRYBB1 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1463847877 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:26612091 (GRCh38)
                22:27008055 (GRCh37)
                Canonical SPDI:
                NC_000022.11:26612090:T:C
                Gene:
                CRYBA4 (Varview), CRYBB1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000021/3 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1460534857 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:26612103 (GRCh38)
                  22:27008067 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:26612102:G:A
                  Gene:
                  CRYBA4 (Varview), CRYBB1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1451379668 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    22:26599659 (GRCh38)
                    22:26995623 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:26599658:T:C
                    Gene:
                    CRYBA4 (Varview), CRYBB1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1444738014 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:26612190 (GRCh38)
                      22:27008154 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:26612189:G:A
                      Gene:
                      CRYBA4 (Varview), CRYBB1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1443173710 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:26616202 (GRCh38)
                        22:27012166 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:26616201:C:T
                        Gene:
                        CRYBA4 (Varview), CRYBB1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,missense_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:
                        12.

                        rs1442465337 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          22:26602014 (GRCh38)
                          22:26997978 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:26602013:T:C,NC_000022.11:26602013:T:G
                          Gene:
                          CRYBA4 (Varview), CRYBB1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.00007/1 (ALFA)
                          HGVS:
                          13.

                          rs1441276647 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:26608006 (GRCh38)
                            22:27003970 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:26608005:C:T
                            Gene:
                            CRYBA4 (Varview), CRYBB1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1438774640 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:26599599 (GRCh38)
                              22:26995563 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:26599598:T:C
                              Gene:
                              CRYBA4 (Varview), CRYBB1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1418768272 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                22:26612091 (GRCh38)
                                22:27008055 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:26612090:T:
                                Gene:
                                CRYBA4 (Varview), CRYBB1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.000043/1 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1417522282 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  22:26607955 (GRCh38)
                                  22:27003919 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:26607954:A:G
                                  Gene:
                                  CRYBA4 (Varview), CRYBB1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1409761264 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:26612177 (GRCh38)
                                    22:27008141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:26612176:T:C
                                    Gene:
                                    CRYBA4 (Varview), CRYBB1 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1400757152 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      22:26612178 (GRCh38)
                                      22:27008142 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:26612177:C:G,NC_000022.11:26612177:C:T
                                      Gene:
                                      CRYBA4 (Varview), CRYBB1 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1394027324 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        22:26607916 (GRCh38)
                                        22:27003880 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:26607915:C:A
                                        Gene:
                                        CRYBA4 (Varview), CRYBB1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1393899742 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:26601988 (GRCh38)
                                          22:26997952 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:26601987:C:T
                                          Gene:
                                          CRYBA4 (Varview), CRYBB1 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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