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Items: 1 to 20 of 1340

1.

rs1491573162 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    10:102453539 (GRCh38)
    10:104213296 (GRCh37)
    Canonical SPDI:
    NC_000010.11:102453537:ACA:A
    Gene:
    C10orf95 (Varview), C10orf95-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.00691/82 (ALFA)
    -=0.0007/27 (GnomAD)
    -=0.00156/26 (TOMMO)
    HGVS:
    2.

    rs1491458457 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      10:102452043 (GRCh38)
      10:104211800 (GRCh37)
      Canonical SPDI:
      NC_000010.11:102452042:AT:
      Gene:
      C10orf95 (Varview), C10orf95-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491274231 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        10:102453538 (GRCh38)
        10:104213296 (GRCh37)
        Canonical SPDI:
        NC_000010.11:102453538:C:CC
        Gene:
        C10orf95 (Varview), C10orf95-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CC=0./0 (ALFA)
        C=0.00002/1 (GnomAD)
        HGVS:
        4.

        rs1491216653 has merged into rs10706803 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          10:102452372 (GRCh38)
          10:104212129 (GRCh37)
          Canonical SPDI:
          NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          C10orf95 (Varview), C10orf95-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTT=0./0 (ALFA)
          -=0.35/14 (GENOME_DK)
          HGVS:
          NC_000010.11:g.102452372_102452383del, NC_000010.11:g.102452373_102452383del, NC_000010.11:g.102452374_102452383del, NC_000010.11:g.102452375_102452383del, NC_000010.11:g.102452376_102452383del, NC_000010.11:g.102452378_102452383del, NC_000010.11:g.102452380_102452383del, NC_000010.11:g.102452381_102452383del, NC_000010.11:g.102452382_102452383del, NC_000010.11:g.102452383del, NC_000010.11:g.102452383dup, NC_000010.11:g.102452382_102452383dup, NC_000010.11:g.102452381_102452383dup, NC_000010.11:g.102452380_102452383dup, NC_000010.11:g.102452379_102452383dup, NC_000010.11:g.102452378_102452383dup, NC_000010.10:g.104212129_104212140del, NC_000010.10:g.104212130_104212140del, NC_000010.10:g.104212131_104212140del, NC_000010.10:g.104212132_104212140del, NC_000010.10:g.104212133_104212140del, NC_000010.10:g.104212135_104212140del, NC_000010.10:g.104212137_104212140del, NC_000010.10:g.104212138_104212140del, NC_000010.10:g.104212139_104212140del, NC_000010.10:g.104212140del, NC_000010.10:g.104212140dup, NC_000010.10:g.104212139_104212140dup, NC_000010.10:g.104212138_104212140dup, NC_000010.10:g.104212137_104212140dup, NC_000010.10:g.104212136_104212140dup, NC_000010.10:g.104212135_104212140dup
          5.

          rs1491055072 has merged into rs10706803 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            10:102452372 (GRCh38)
            10:104212129 (GRCh37)
            Canonical SPDI:
            NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:102452363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            C10orf95 (Varview), C10orf95-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTT=0./0 (ALFA)
            -=0.35/14 (GENOME_DK)
            HGVS:
            NC_000010.11:g.102452372_102452383del, NC_000010.11:g.102452373_102452383del, NC_000010.11:g.102452374_102452383del, NC_000010.11:g.102452375_102452383del, NC_000010.11:g.102452376_102452383del, NC_000010.11:g.102452378_102452383del, NC_000010.11:g.102452380_102452383del, NC_000010.11:g.102452381_102452383del, NC_000010.11:g.102452382_102452383del, NC_000010.11:g.102452383del, NC_000010.11:g.102452383dup, NC_000010.11:g.102452382_102452383dup, NC_000010.11:g.102452381_102452383dup, NC_000010.11:g.102452380_102452383dup, NC_000010.11:g.102452379_102452383dup, NC_000010.11:g.102452378_102452383dup, NC_000010.10:g.104212129_104212140del, NC_000010.10:g.104212130_104212140del, NC_000010.10:g.104212131_104212140del, NC_000010.10:g.104212132_104212140del, NC_000010.10:g.104212133_104212140del, NC_000010.10:g.104212135_104212140del, NC_000010.10:g.104212137_104212140del, NC_000010.10:g.104212138_104212140del, NC_000010.10:g.104212139_104212140del, NC_000010.10:g.104212140del, NC_000010.10:g.104212140dup, NC_000010.10:g.104212139_104212140dup, NC_000010.10:g.104212138_104212140dup, NC_000010.10:g.104212137_104212140dup, NC_000010.10:g.104212136_104212140dup, NC_000010.10:g.104212135_104212140dup
            6.

            rs1490875039 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:102449495 (GRCh38)
              10:104209252 (GRCh37)
              Canonical SPDI:
              NC_000010.11:102449494:G:A
              Gene:
              C10orf95 (Varview), C10orf95-AS1 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,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)
              HGVS:
              7.

              rs1490057035 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                10:102449813 (GRCh38)
                10:104209570 (GRCh37)
                Canonical SPDI:
                NC_000010.11:102449812:CT:
                Gene:
                C10orf95 (Varview), C10orf95-AS1 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1490032344 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  10:102451185 (GRCh38)
                  10:104210943 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:102451185:TT:TTT
                  Gene:
                  C10orf95 (Varview), C10orf95-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTT=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000008/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1489582187 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    10:102450086 (GRCh38)
                    10:104209843 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:102450085:A:C
                    Gene:
                    C10orf95 (Varview), C10orf95-AS1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488215809 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:102452494 (GRCh38)
                      10:104212251 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:102452493:T:C
                      Gene:
                      C10orf95 (Varview), C10orf95-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1487091399 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:102450400 (GRCh38)
                        10:104210157 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:102450399:G:A
                        Gene:
                        C10orf95 (Varview), C10orf95-AS1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486165365 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          10:102452388 (GRCh38)
                          10:104212145 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:102452387:C:A,NC_000010.11:102452387:C:T
                          Gene:
                          C10orf95 (Varview), C10orf95-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          A=0.00167/47 (TOMMO)
                          HGVS:
                          13.

                          rs1486137110 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            10:102452036 (GRCh38)
                            10:104211793 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:102452035:C:G
                            Gene:
                            C10orf95 (Varview), C10orf95-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485997291 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:102450193 (GRCh38)
                              10:104209950 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102450192:G:A
                              Gene:
                              C10orf95 (Varview), C10orf95-AS1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              A=0.00005/7 (GnomAD)
                              HGVS:
                              15.

                              rs1485493970 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                10:102450008 (GRCh38)
                                10:104209765 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:102450007:GG:G
                                Gene:
                                C10orf95 (Varview), C10orf95-AS1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1484560215 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  10:102453172 (GRCh38)
                                  10:104212929 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:102453171:C:A
                                  Gene:
                                  C10orf95 (Varview), C10orf95-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.00008/1 (ALFA)
                                  HGVS:
                                  17.

                                  rs1484211900 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:102453294 (GRCh38)
                                    10:104213051 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:102453293:C:T
                                    Gene:
                                    C10orf95 (Varview), C10orf95-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_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:
                                    18.

                                    rs1483859803 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      10:102450896 (GRCh38)
                                      10:104210653 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:102450895:C:G
                                      Gene:
                                      C10orf95 (Varview), C10orf95-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000015/4 (TOPMED)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483549990 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        10:102452529 (GRCh38)
                                        10:104212286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:102452528:C:A
                                        Gene:
                                        C10orf95 (Varview), C10orf95-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.0002/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1483542804 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          10:102450646 (GRCh38)
                                          10:104210403 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:102450645:C:A,NC_000010.11:102450645:C:T
                                          Gene:
                                          C10orf95 (Varview), C10orf95-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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