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Items: 1 to 20 of 1221

1.

rs1490715091 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    19:38771392 (GRCh38)
    19:39262032 (GRCh37)
    Canonical SPDI:
    NC_000019.10:38771391:G:
    Gene:
    LGALS7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00002/1 (GnomAD)
    HGVS:
    2.

    rs1490235817 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      19:38770634 (GRCh38)
      19:39261274 (GRCh37)
      Canonical SPDI:
      NC_000019.10:38770633:C:G
      Gene:
      LGALS7 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.00008/1 (ALFA)
      G=0.00017/12 (GnomAD)
      HGVS:
      3.

      rs1489894470 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:38788138 (GRCh38)
        19:39278778 (GRCh37)
        Canonical SPDI:
        NC_000019.10:38788137:G:C
        Gene:
        LGALS7B (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.00002/2 (GnomAD)
        HGVS:
        4.

        rs1488846719 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:38770584 (GRCh38)
          19:39261224 (GRCh37)
          Canonical SPDI:
          NC_000019.10:38770583:A:G
          Gene:
          LGALS7 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.00034/4 (ALFA)
          G=0.00032/30 (GnomAD)
          HGVS:
          5.

          rs1488733019 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:38772448 (GRCh38)
            19:39263088 (GRCh37)
            Canonical SPDI:
            NC_000019.10:38772447:T:C
            Gene:
            LGALS7 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1488503977 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              19:38788962 (GRCh38)
              19:39279602 (GRCh37)
              Canonical SPDI:
              NC_000019.10:38788961:G:C
              Gene:
              LGALS7B (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488362423 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:38787570 (GRCh38)
                19:39278210 (GRCh37)
                Canonical SPDI:
                NC_000019.10:38787569:G:A
                Gene:
                LGALS7B (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.00008/1 (ALFA)
                HGVS:
                8.

                rs1488345923 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:38774332 (GRCh38)
                  19:39264972 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:38774331:G:A
                  Gene:
                  LGALS7 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_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=0.000177/3 (TOMMO)
                  A=0.001027/3 (KOREAN)
                  A=0.002183/4 (Korea1K)
                  ...more
                  HGVS:
                  9.

                  rs1488037722 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:38770570 (GRCh38)
                    19:39261210 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:38770569:A:G
                    Gene:
                    LGALS7 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487387051 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:38773101 (GRCh38)
                      19:39263741 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:38773100:G:A,NC_000019.10:38773100:G:C
                      Gene:
                      LGALS7 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (KOREAN)
                      HGVS:
                      11.

                      rs1487134651 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        19:38787900 (GRCh38)
                        19:39278541 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:38787900:TTTT:TTTTT
                        Gene:
                        LGALS7B (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTT=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        ...more
                        HGVS:
                        12.

                        rs1486818213 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          19:38772799 (GRCh38)
                          19:39263439 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:38772798:T:A
                          Gene:
                          LGALS7 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1486775519 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            19:38770679 (GRCh38)
                            19:39261319 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:38770678:G:C
                            Gene:
                            LGALS7 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485398800 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              19:38788880 (GRCh38)
                              19:39279520 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:38788879:G:A,NC_000019.10:38788879:G:T
                              Gene:
                              LGALS7B (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000019/5 (TOPMED)
                              A=0.000637/11 (TOMMO)
                              ...more
                              HGVS:
                              15.

                              rs1485334470 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:38787582 (GRCh38)
                                19:39278222 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:38787581:C:T
                                Gene:
                                LGALS7B (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                ...more
                                HGVS:
                                16.

                                rs1485210254 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:38774500 (GRCh38)
                                  19:39265140 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:38774499:C:T
                                  Gene:
                                  LGALS7 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1484098729 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    19:38773736 (GRCh38)
                                    19:39264376 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:38773735:G:T
                                    Gene:
                                    LGALS7 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    ...more
                                    HGVS:
                                    18.

                                    rs1483015256 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      19:38775222 (GRCh38)
                                      19:39265862 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:38775221:C:A,NC_000019.10:38775221:C:G
                                      Gene:
                                      LGALS7 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482075324 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        19:38774057 (GRCh38)
                                        19:39264697 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:38774056:GGGGG:GGGG
                                        Gene:
                                        LGALS7 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GGGG=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482024149 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:38774715 (GRCh38)
                                          19:39265355 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:38774714:T:C
                                          Gene:
                                          LGALS7 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          ...more
                                          HGVS:

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