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1.

rs1491512824 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GT [Show Flanks]
    Chromosome:
    5:163519719 (GRCh38)
    5:162946726 (GRCh37)
    Canonical SPDI:
    NC_000005.10:163519719:T:TGT
    Gene:
    MAT2B (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGT=0./0 (ALFA)
    TG=0.01323/5 (GnomAD)
    HGVS:
    2.

    rs1491472621 has merged into rs66978639 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      5:163515781 (GRCh38)
      5:162942787 (GRCh37)
      Canonical SPDI:
      NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163515770:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      MAT2B (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000005.10:g.163515781_163515796del, NC_000005.10:g.163515782_163515796del, NC_000005.10:g.163515783_163515796del, NC_000005.10:g.163515784_163515796del, NC_000005.10:g.163515785_163515796del, NC_000005.10:g.163515786_163515796del, NC_000005.10:g.163515787_163515796del, NC_000005.10:g.163515788_163515796del, NC_000005.10:g.163515789_163515796del, NC_000005.10:g.163515790_163515796del, NC_000005.10:g.163515791_163515796del, NC_000005.10:g.163515792_163515796del, NC_000005.10:g.163515793_163515796del, NC_000005.10:g.163515794_163515796del, NC_000005.10:g.163515795_163515796del, NC_000005.10:g.163515796del, NC_000005.10:g.163515796dup, NC_000005.10:g.163515795_163515796dup, NC_000005.10:g.163515794_163515796dup, NC_000005.10:g.163515793_163515796dup, NC_000005.10:g.163515792_163515796dup, NC_000005.10:g.163515791_163515796dup, NC_000005.10:g.163515790_163515796dup, NC_000005.10:g.163515789_163515796dup, NC_000005.10:g.163515788_163515796dup, NC_000005.10:g.163515787_163515796dup, NC_000005.10:g.163515786_163515796dup, NC_000005.10:g.163515785_163515796dup, NC_000005.10:g.163515784_163515796dup, NC_000005.10:g.163515783_163515796dup, NC_000005.10:g.163515782_163515796dup, NC_000005.10:g.163515781_163515796dup, NC_000005.10:g.163515779_163515796dup, NC_000005.10:g.163515778_163515796dup, NC_000005.10:g.163515777_163515796dup, NC_000005.10:g.163515796_163515797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.163515796_163515797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.162942787_162942802del, NC_000005.9:g.162942788_162942802del, NC_000005.9:g.162942789_162942802del, NC_000005.9:g.162942790_162942802del, NC_000005.9:g.162942791_162942802del, NC_000005.9:g.162942792_162942802del, NC_000005.9:g.162942793_162942802del, NC_000005.9:g.162942794_162942802del, NC_000005.9:g.162942795_162942802del, NC_000005.9:g.162942796_162942802del, NC_000005.9:g.162942797_162942802del, NC_000005.9:g.162942798_162942802del, NC_000005.9:g.162942799_162942802del, NC_000005.9:g.162942800_162942802del, NC_000005.9:g.162942801_162942802del, NC_000005.9:g.162942802del, NC_000005.9:g.162942802dup, NC_000005.9:g.162942801_162942802dup, NC_000005.9:g.162942800_162942802dup, NC_000005.9:g.162942799_162942802dup, NC_000005.9:g.162942798_162942802dup, NC_000005.9:g.162942797_162942802dup, NC_000005.9:g.162942796_162942802dup, NC_000005.9:g.162942795_162942802dup, NC_000005.9:g.162942794_162942802dup, NC_000005.9:g.162942793_162942802dup, NC_000005.9:g.162942792_162942802dup, NC_000005.9:g.162942791_162942802dup, NC_000005.9:g.162942790_162942802dup, NC_000005.9:g.162942789_162942802dup, NC_000005.9:g.162942788_162942802dup, NC_000005.9:g.162942787_162942802dup, NC_000005.9:g.162942785_162942802dup, NC_000005.9:g.162942784_162942802dup, NC_000005.9:g.162942783_162942802dup, NC_000005.9:g.162942802_162942803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.162942802_162942803insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491268366 has merged into rs71837440 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        5:163519730 (GRCh38)
        5:162946736 (GRCh37)
        Canonical SPDI:
        NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:163519718:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        MAT2B (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTT=0./0 (ALFA)
        -=0.3145/1575 (1000Genomes)
        HGVS:
        NC_000005.10:g.163519730_163519736del, NC_000005.10:g.163519732_163519736del, NC_000005.10:g.163519733_163519736del, NC_000005.10:g.163519734_163519736del, NC_000005.10:g.163519735_163519736del, NC_000005.10:g.163519736del, NC_000005.10:g.163519736dup, NC_000005.10:g.163519735_163519736dup, NC_000005.10:g.163519734_163519736dup, NC_000005.10:g.163519733_163519736dup, NC_000005.10:g.163519732_163519736dup, NC_000005.10:g.163519731_163519736dup, NC_000005.10:g.163519730_163519736dup, NC_000005.10:g.163519728_163519736dup, NC_000005.10:g.163519721_163519736dup, NC_000005.9:g.162946736_162946742del, NC_000005.9:g.162946738_162946742del, NC_000005.9:g.162946739_162946742del, NC_000005.9:g.162946740_162946742del, NC_000005.9:g.162946741_162946742del, NC_000005.9:g.162946742del, NC_000005.9:g.162946742dup, NC_000005.9:g.162946741_162946742dup, NC_000005.9:g.162946740_162946742dup, NC_000005.9:g.162946739_162946742dup, NC_000005.9:g.162946738_162946742dup, NC_000005.9:g.162946737_162946742dup, NC_000005.9:g.162946736_162946742dup, NC_000005.9:g.162946734_162946742dup, NC_000005.9:g.162946727_162946742dup
        4.

        rs1491265503 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CTTTT [Show Flanks]
          Chromosome:
          5:163515771 (GRCh38)
          5:162942778 (GRCh37)
          Canonical SPDI:
          NC_000005.10:163515771:TTTT:TTTTCTTTT
          Gene:
          MAT2B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTCTTTT=0./0 (ALFA)
          TTTTC=0.0002/5 (TOMMO)
          TTTTC=0.00112/2 (Korea1K)
          HGVS:
          5.

          rs1491115837 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->ATTTT [Show Flanks]
            Chromosome:
            5:163511438 (GRCh38)
            5:162938445 (GRCh37)
            Canonical SPDI:
            NC_000005.10:163511438::ATTTT
            Gene:
            MAT2B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ATTTT=0.0002/1 (ALFA)
            HGVS:
            6.

            rs1490904820 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:163510523 (GRCh38)
              5:162937529 (GRCh37)
              Canonical SPDI:
              NC_000005.10:163510522:T:C
              Gene:
              MAT2B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000019/5 (TOPMED)
              C=0.000021/3 (GnomAD)
              C=0.000035/1 (TOMMO)
              C=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1490899944 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTTTTTTTG>- [Show Flanks]
                Chromosome:
                5:163508611 (GRCh38)
                5:162935617 (GRCh37)
                Canonical SPDI:
                NC_000005.10:163508602:TTTTTTTGGTTTTTTTG:TTTTTTTG
                Gene:
                MAT2B (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTG=0.000285/4 (ALFA)
                -=0.00011/29 (TOPMED)
                -=0.000136/19 (GnomAD)
                HGVS:
                8.

                rs1490773257 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAG>- [Show Flanks]
                  Chromosome:
                  5:163510767 (GRCh38)
                  5:162937773 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:163510764:AGAAAG:AG
                  Gene:
                  MAT2B (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AG=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490610241 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:163510438 (GRCh38)
                    5:162937444 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:163510437:C:T
                    Gene:
                    MAT2B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490472144 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      5:163502504 (GRCh38)
                      5:162929510 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:163502503:A:C
                      Gene:
                      MAT2B (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1490417257 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        5:163503537 (GRCh38)
                        5:162930543 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:163503536:G:A,NC_000005.10:163503536:G:T
                        Gene:
                        MAT2B (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490415614 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:163511412 (GRCh38)
                          5:162938418 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:163511411:C:T
                          Gene:
                          MAT2B (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000054/1 (ALFA)
                          T=0.000022/3 (GnomAD)
                          T=0.000026/7 (TOPMED)
                          T=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1490411358 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            5:163509503 (GRCh38)
                            5:162936509 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:163509502:C:T
                            Gene:
                            MAT2B (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490281215 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:163511202 (GRCh38)
                              5:162938208 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:163511201:A:G
                              Gene:
                              MAT2B (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490077357 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:163504556 (GRCh38)
                                5:162931562 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:163504555:A:G
                                Gene:
                                MAT2B (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant,upstream_transcript_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.

                                rs1489982032 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:163502970 (GRCh38)
                                  5:162929976 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:163502969:A:G
                                  Gene:
                                  MAT2B (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489915714 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AATT>- [Show Flanks]
                                    Chromosome:
                                    5:163504099 (GRCh38)
                                    5:162931105 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:163504094:AATTAATT:AATT
                                    Gene:
                                    MAT2B (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    AATTAATT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489867705 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:163517399 (GRCh38)
                                      5:162944405 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:163517398:A:G
                                      Gene:
                                      MAT2B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489771882 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        5:163519167 (GRCh38)
                                        5:162946173 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:163519166:T:
                                        Gene:
                                        MAT2B (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489739188 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:163512277 (GRCh38)
                                          5:162939283 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:163512276:A:G
                                          Gene:
                                          MAT2B (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000023/6 (TOPMED)
                                          G=0.000036/5 (GnomAD)
                                          HGVS:

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