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Items: 1 to 20 of 6978

1.

rs1491557969 has merged into rs34300741 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
    Chromosome:
    13:113896177 (GRCh38)
    13:114599150 (GRCh37)
    Canonical SPDI:
    NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG
    Gene:
    LINC00452 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
    TGTGTG=0.000004/1 (TOPMED)
    TG=0.225/9 (GENOME_DK)
    TG=0.248333/149 (NorthernSweden)
    HGVS:
    2.

    rs1491301183 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      13:113920528 (GRCh38)
      13:114623502 (GRCh37)
      Canonical SPDI:
      NC_000013.11:113920528:T:TT
      Gene:
      LINC00452 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1491283705 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        13:113919944 (GRCh38)
        13:114622917 (GRCh37)
        Canonical SPDI:
        NC_000013.11:113919943:CA:
        Gene:
        LINC00452 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000011/3 (TOPMED)
        -=0.000015/2 (GnomAD)
        HGVS:
        4.

        rs1491142219 has merged into rs1352604078 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GCACTGAGTGTGCCAG>-,GCACTGAGTGTGCCAGGCACTGAGTGTGCCAG [Show Flanks]
          Chromosome:
          13:113919955 (GRCh38)
          13:114622928 (GRCh37)
          Canonical SPDI:
          NC_000013.11:113919944:AGTGTGCCAGGCACTGAGTGTGCCAG:AGTGTGCCAG,NC_000013.11:113919944:AGTGTGCCAGGCACTGAGTGTGCCAG:AGTGTGCCAGGCACTGAGTGTGCCAGGCACTGAGTGTGCCAG
          Gene:
          LINC00452 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGTGTGCCAGGCACTGAGTGTGCCAGGCACTGAGTGTGCCAG=0./0 (ALFA)
          HGVS:
          5.

          rs1490842275 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            13:113907367 (GRCh38)
            13:114610340 (GRCh37)
            Canonical SPDI:
            NC_000013.11:113907366:C:G
            Gene:
            LINC00452 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490569970 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              13:113898252 (GRCh38)
              13:114601225 (GRCh37)
              Canonical SPDI:
              NC_000013.11:113898251:C:G
              Gene:
              LINC00452 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1490486290 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                13:113914919 (GRCh38)
                13:114617892 (GRCh37)
                Canonical SPDI:
                NC_000013.11:113914918:CCC:CC
                Gene:
                LINC00452 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                HGVS:
                8.

                rs1490331122 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  13:113905211 (GRCh38)
                  13:114608184 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:113905210:A:C
                  Gene:
                  LINC00452 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000011/3 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490300074 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    13:113923121 (GRCh38)
                    13:114626094 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:113923120:AA:A
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490276649 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:113909701 (GRCh38)
                      13:114612674 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:113909700:A:G
                      Gene:
                      LINC00452 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490205396 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        13:113907529 (GRCh38)
                        13:114610502 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:113907528:G:A
                        Gene:
                        LINC00452 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490148357 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          13:113901743 (GRCh38)
                          13:114604716 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:113901742:G:T
                          Gene:
                          LINC00452 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          13.

                          rs1490022421 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            13:113916293 (GRCh38)
                            13:114619266 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:113916292:G:T
                            Gene:
                            LINC00452 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489985887 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              13:113924531 (GRCh38)
                              13:114627504 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:113924527:TCTCT:TCT
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCT=0.000054/1 (ALFA)
                              -=0.000034/9 (TOPMED)
                              -=0.00005/7 (GnomAD)
                              -=0.000223/1 (Estonian)
                              HGVS:
                              15.

                              rs1489767731 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                13:113906279 (GRCh38)
                                13:114609252 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:113906278:C:T
                                Gene:
                                LINC00452 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489679318 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  13:113922193 (GRCh38)
                                  13:114625166 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:113922192:C:G,NC_000013.11:113922192:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000019/5 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489600263 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    13:113893301 (GRCh38)
                                    13:114596274 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:113893300:T:A
                                    Gene:
                                    LINC00452 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489560735 has merged into rs34861359 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      13:113894599 (GRCh38)
                                      13:114597572 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      LINC00452 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000013.11:g.113894599_113894613del, NC_000013.11:g.113894600_113894613del, NC_000013.11:g.113894602_113894613del, NC_000013.11:g.113894603_113894613del, NC_000013.11:g.113894605_113894613del, NC_000013.11:g.113894606_113894613del, NC_000013.11:g.113894607_113894613del, NC_000013.11:g.113894608_113894613del, NC_000013.11:g.113894609_113894613del, NC_000013.11:g.113894610_113894613del, NC_000013.11:g.113894611_113894613del, NC_000013.11:g.113894612_113894613del, NC_000013.11:g.113894613del, NC_000013.11:g.113894613dup, NC_000013.11:g.113894612_113894613dup, NC_000013.11:g.113894611_113894613dup, NC_000013.11:g.113894610_113894613dup, NC_000013.11:g.113894609_113894613dup, NC_000013.11:g.113894608_113894613dup, NC_000013.11:g.113894607_113894613dup, NC_000013.11:g.113894606_113894613dup, NC_000013.11:g.113894605_113894613dup, NC_000013.11:g.113894603_113894613dup, NC_000013.11:g.113894602_113894613dup, NC_000013.11:g.113894601_113894613dup, NC_000013.11:g.113894600_113894613dup, NC_000013.11:g.113894599_113894613dup, NC_000013.11:g.113894593_113894613dup, NC_000013.11:g.113894613_113894614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.114597572_114597586del, NC_000013.10:g.114597573_114597586del, NC_000013.10:g.114597575_114597586del, NC_000013.10:g.114597576_114597586del, NC_000013.10:g.114597578_114597586del, NC_000013.10:g.114597579_114597586del, NC_000013.10:g.114597580_114597586del, NC_000013.10:g.114597581_114597586del, NC_000013.10:g.114597582_114597586del, NC_000013.10:g.114597583_114597586del, NC_000013.10:g.114597584_114597586del, NC_000013.10:g.114597585_114597586del, NC_000013.10:g.114597586del, NC_000013.10:g.114597586dup, NC_000013.10:g.114597585_114597586dup, NC_000013.10:g.114597584_114597586dup, NC_000013.10:g.114597583_114597586dup, NC_000013.10:g.114597582_114597586dup, NC_000013.10:g.114597581_114597586dup, NC_000013.10:g.114597580_114597586dup, NC_000013.10:g.114597579_114597586dup, NC_000013.10:g.114597578_114597586dup, NC_000013.10:g.114597576_114597586dup, NC_000013.10:g.114597575_114597586dup, NC_000013.10:g.114597574_114597586dup, NC_000013.10:g.114597573_114597586dup, NC_000013.10:g.114597572_114597586dup, NC_000013.10:g.114597566_114597586dup, NC_000013.10:g.114597586_114597587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      19.

                                      rs1489553965 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        13:113920808 (GRCh38)
                                        13:114623781 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:113920807:C:G
                                        Gene:
                                        LINC00452 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1489502766 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          13:113920041 (GRCh38)
                                          13:114623014 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:113920040:A:T
                                          Gene:
                                          LINC00452 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00068/2 (KOREAN)
                                          HGVS:

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