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Links from Gene

Items: 1 to 20 of 1435

1.

rs1490469935 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    3:138946015 (GRCh38)
    3:138664857 (GRCh37)
    Canonical SPDI:
    NC_000003.12:138946014:G:A,NC_000003.12:138946014:G:C
    Gene:
    FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
    Functional Consequence:
    coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000021/3 (GnomAD)
    A=0.000042/11 (TOPMED)
    HGVS:
    2.

    rs1490404701 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:138947065 (GRCh38)
      3:138665907 (GRCh37)
      Canonical SPDI:
      NC_000003.12:138947064:C:T
      Gene:
      FOXL2 (Varview), FOXL2NB (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1489606118 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:138945958 (GRCh38)
        3:138664800 (GRCh37)
        Canonical SPDI:
        NC_000003.12:138945957:G:A
        Gene:
        FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
        Functional Consequence:
        coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489059671 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:138949032 (GRCh38)
          3:138667874 (GRCh37)
          Canonical SPDI:
          NC_000003.12:138949031:T:C
          Gene:
          FOXL2 (Varview), FOXL2NB (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488648712 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            3:138945192 (GRCh38)
            3:138664034 (GRCh37)
            Canonical SPDI:
            NC_000003.12:138945191:G:T
            Gene:
            FOXL2 (Varview), LINC01391 (Varview)
            Functional Consequence:
            upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            6.

            rs1487913229 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              3:138946990 (GRCh38)
              3:138665832 (GRCh37)
              Canonical SPDI:
              NC_000003.12:138946989:C:A,NC_000003.12:138946989:C:T
              Gene:
              FOXL2 (Varview), FOXL2NB (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1487840393 has merged into rs1057516173 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GGCTGCAGCCGCAGCTGCTGCAGCCGC>-,GGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC [Show Flanks]
                Chromosome:
                3:138946024 (GRCh38)
                3:138664866 (GRCh37)
                Canonical SPDI:
                NC_000003.12:138946019:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC:CCGC,NC_000003.12:138946019:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC:CCGCGGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC
                Gene:
                FOXL2 (Varview), FOXL2NB (Varview), LINC01391 (Varview)
                Functional Consequence:
                inframe_deletion,upstream_transcript_variant,inframe_insertion,coding_sequence_variant,2KB_upstream_variant
                Clinical significance:
                pathogenic
                Validated:
                by frequency,by alfa
                MAF:
                CCGC=0./0 (ALFA)
                HGVS:
                8.

                rs1487527950 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  3:138946465 (GRCh38)
                  3:138665307 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:138946464:C:G,NC_000003.12:138946464:C:T
                  Gene:
                  FOXL2 (Varview), FOXL2NB (Varview)
                  Functional Consequence:
                  coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1487412397 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    3:138948261 (GRCh38)
                    3:138667103 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:138948260:C:G
                    Gene:
                    FOXL2 (Varview), FOXL2NB (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.0002/1 (ALFA)
                    G=0.0002/1 (Estonian)
                    HGVS:
                    10.

                    rs1487216057 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:138944528 (GRCh38)
                      3:138663370 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:138944527:C:T
                      Gene:
                      FOXL2 (Varview), LINC01391 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1487055849 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:138948342 (GRCh38)
                        3:138667184 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:138948341:G:A
                        Gene:
                        FOXL2 (Varview), FOXL2NB (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        HGVS:
                        12.

                        rs1487037472 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:138947371 (GRCh38)
                          3:138666213 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:138947370:A:G
                          Gene:
                          FOXL2 (Varview), FOXL2NB (Varview)
                          Functional Consequence:
                          coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          HGVS:
                          13.

                          rs1486990862 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TCAGCTATTGCACTAACACAGGCGGG>- [Show Flanks]
                            Chromosome:
                            3:138947855 (GRCh38)
                            3:138666697 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:138947854:TCAGCTATTGCACTAACACAGGCGGG:
                            Gene:
                            FOXL2 (Varview), FOXL2NB (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.000253/3 (ALFA)
                            -=0.000242/34 (GnomAD)
                            HGVS:
                            14.

                            rs1486225463 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ACAA>- [Show Flanks]
                              Chromosome:
                              3:138944059 (GRCh38)
                              3:138662901 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:138944052:AAACAAACAA:AAACAA
                              Gene:
                              FOXL2 (Varview), LINC01391 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAACAA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1484383823 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                3:138948828 (GRCh38)
                                3:138667671 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:138948828:A:AA
                                Gene:
                                FOXL2 (Varview), FOXL2NB (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AA=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484350767 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CCT>- [Show Flanks]
                                  Chromosome:
                                  3:138948137 (GRCh38)
                                  3:138666979 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:138948134:CTCCT:CT
                                  Gene:
                                  FOXL2 (Varview), FOXL2NB (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CT=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1483713798 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    3:138945019 (GRCh38)
                                    3:138663861 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:138945018:C:A,NC_000003.12:138945018:C:T
                                    Gene:
                                    FOXL2 (Varview), LINC01391 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000023/6 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483177689 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      3:138947407 (GRCh38)
                                      3:138666249 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:138947406:C:A
                                      Gene:
                                      FOXL2 (Varview), FOXL2NB (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000028/1 (ALFA)
                                      A=0.000122/18 (GnomAD_exomes)
                                      A=0.000291/77 (TOPMED)
                                      A=0.000356/50 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483061317 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:138944199 (GRCh38)
                                        3:138663041 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:138944198:A:G
                                        Gene:
                                        FOXL2 (Varview), LINC01391 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1482488190 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:138946442 (GRCh38)
                                          3:138665284 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:138946441:T:C
                                          Gene:
                                          FOXL2 (Varview), FOXL2NB (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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