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Links from Gene

Items: 1 to 20 of 2716

1.

rs1491347237 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    22:22407616 (GRCh38)
    22:22761949 (GRCh37)
    Canonical SPDI:
    NC_000022.11:22407616::A
    Gene:
    LOC101929255 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.00028/3 (ALFA)
    HGVS:
    2.

    rs1491301381 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      TC>-
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1490871252 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        22:22410321 (GRCh38)
        22:22764653 (GRCh37)
        Canonical SPDI:
        NC_000022.11:22410320:C:A
        Gene:
        LOC101929255 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490845442 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          22:22410390 (GRCh38)
          22:22764722 (GRCh37)
          Canonical SPDI:
          NC_000022.11:22410389:G:T
          Gene:
          LOC101929255 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490717455 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            22:22403668 (GRCh38)
            22:22758000 (GRCh37)
            Canonical SPDI:
            NC_000022.11:22403667:A:T
            Gene:
            LOC101929255 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490605687 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:22403976 (GRCh38)
              22:22758308 (GRCh37)
              Canonical SPDI:
              NC_000022.11:22403975:G:C
              Gene:
              LOC101929255 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000034/9 (TOPMED)
              C=0.000071/10 (GnomAD)
              HGVS:
              7.

              rs1489373778 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                22:22405128 (GRCh38)
                22:22759460 (GRCh37)
                Canonical SPDI:
                NC_000022.11:22405127:C:T
                Gene:
                LOC101929255 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000021/3 (GnomAD)
                T=0.000042/11 (TOPMED)
                HGVS:
                8.

                rs1489264353 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  22:22406270 (GRCh38)
                  22:22760602 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:22406269:A:C
                  Gene:
                  LOC101929255 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489165026 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    22:22402885 (GRCh38)
                    22:22757218 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:22402885:AAAA:AAAAA
                    Gene:
                    LOC101929255 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAA=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488822259 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      C>T
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1488754425 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        22:22408687 (GRCh38)
                        22:22763019 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:22408686:T:A
                        Gene:
                        LOC101929255 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,splice_acceptor_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1488481423 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          22:22408020 (GRCh38)
                          22:22762352 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:22408019:A:G,NC_000022.11:22408019:A:T
                          Gene:
                          LOC101929255 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488285045 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:22405704 (GRCh38)
                            22:22760036 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:22405703:A:G
                            Gene:
                            LOC101929255 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.0307/137 (ALFA)
                            HGVS:
                            14.

                            rs1488173228 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:22402380 (GRCh38)
                              22:22756715 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:22402379:C:T
                              Gene:
                              LOC101929255 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.00003/8 (TOPMED)
                              T=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1488055123 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                22:22403887 (GRCh38)
                                22:22758219 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:22403886:T:G
                                Gene:
                                LOC101929255 (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:
                                16.

                                rs1487632146 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  22:22410020 (GRCh38)
                                  22:22764352 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:22410019:G:A,NC_000022.11:22410019:G:T
                                  Gene:
                                  LOC101929255 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.00016/1 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1487457272 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:22410322 (GRCh38)
                                    22:22764654 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:22410321:C:T
                                    Gene:
                                    LOC101929255 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487428219 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      22:22405217 (GRCh38)
                                      22:22759549 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:22405216:C:A
                                      Gene:
                                      LOC101929255 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487185561 has merged into rs11342554 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                        Chromosome:
                                        22:22402449 (GRCh38)
                                        22:22756784 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        Gene:
                                        LOC101929255 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTTTT=0./0 (ALFA)
                                        HGVS:
                                        NC_000022.11:g.22402449_22402463del, NC_000022.11:g.22402450_22402463del, NC_000022.11:g.22402451_22402463del, NC_000022.11:g.22402452_22402463del, NC_000022.11:g.22402453_22402463del, NC_000022.11:g.22402454_22402463del, NC_000022.11:g.22402455_22402463del, NC_000022.11:g.22402456_22402463del, NC_000022.11:g.22402457_22402463del, NC_000022.11:g.22402458_22402463del, NC_000022.11:g.22402459_22402463del, NC_000022.11:g.22402460_22402463del, NC_000022.11:g.22402461_22402463del, NC_000022.11:g.22402462_22402463del, NC_000022.11:g.22402463del, NC_000022.11:g.22402463dup, NC_000022.11:g.22402462_22402463dup, NC_000022.11:g.22402461_22402463dup, NC_000022.11:g.22402460_22402463dup, NC_000022.11:g.22402459_22402463dup, NC_000022.11:g.22402455_22402463dup, NC_000022.11:g.22402463_22402464insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.22756793_22756795dup, NC_000022.10:g.22756784_22756795del, NC_000022.10:g.22756785_22756795del, NC_000022.10:g.22756786_22756795del, NC_000022.10:g.22756787_22756795del, NC_000022.10:g.22756788_22756795del, NC_000022.10:g.22756789_22756795del, NC_000022.10:g.22756790_22756795del, NC_000022.10:g.22756791_22756795del, NC_000022.10:g.22756792_22756795del, NC_000022.10:g.22756793_22756795del, NC_000022.10:g.22756794_22756795del, NC_000022.10:g.22756795del, NC_000022.10:g.22756795dup, NC_000022.10:g.22756794_22756795dup, NC_000022.10:g.22756792_22756795dup, NC_000022.10:g.22756791_22756795dup, NC_000022.10:g.22756790_22756795dup, NC_000022.10:g.22756789_22756795dup, NC_000022.10:g.22756788_22756795dup, NC_000022.10:g.22756784_22756795dup, NC_000022.10:g.22756795_22756796insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_000002.1:g.380782_380784dup, NG_000002.1:g.380773_380784del, NG_000002.1:g.380774_380784del, NG_000002.1:g.380775_380784del, NG_000002.1:g.380776_380784del, NG_000002.1:g.380777_380784del, NG_000002.1:g.380778_380784del, NG_000002.1:g.380779_380784del, NG_000002.1:g.380780_380784del, NG_000002.1:g.380781_380784del, NG_000002.1:g.380782_380784del, NG_000002.1:g.380783_380784del, NG_000002.1:g.380784del, NG_000002.1:g.380784dup, NG_000002.1:g.380783_380784dup, NG_000002.1:g.380781_380784dup, NG_000002.1:g.380780_380784dup, NG_000002.1:g.380779_380784dup, NG_000002.1:g.380778_380784dup, NG_000002.1:g.380777_380784dup, NG_000002.1:g.380773_380784dup, NG_000002.1:g.380784_380785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187629.1:g.38110_38111dup, NT_187629.1:g.38099_38111del, NT_187629.1:g.38100_38111del, NT_187629.1:g.38101_38111del, NT_187629.1:g.38102_38111del, NT_187629.1:g.38103_38111del, NT_187629.1:g.38104_38111del, NT_187629.1:g.38105_38111del, NT_187629.1:g.38106_38111del, NT_187629.1:g.38107_38111del, NT_187629.1:g.38108_38111del, NT_187629.1:g.38109_38111del, NT_187629.1:g.38110_38111del, NT_187629.1:g.38111del, NT_187629.1:g.38111dup, NT_187629.1:g.38109_38111dup, NT_187629.1:g.38108_38111dup, NT_187629.1:g.38107_38111dup, NT_187629.1:g.38106_38111dup, NT_187629.1:g.38105_38111dup, NT_187629.1:g.38101_38111dup, NT_187629.1:g.38111_38112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                        20.

                                        rs1487038777 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:22410738 (GRCh38)
                                          22:22765070 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:22410737:C:T
                                          Gene:
                                          LOC101929255 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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