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Items: 1 to 20 of 10241

1.

rs1491403445 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    19:29558085 (GRCh38)
    19:30048992 (GRCh37)
    Canonical SPDI:
    NC_000019.10:29558084:AT:
    Gene:
    VSTM2B (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    -=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1491307972 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,G,T [Show Flanks]
      Chromosome:
      19:29530442 (GRCh38)
      19:30021350 (GRCh37)
      Canonical SPDI:
      NC_000019.10:29530442::A,NC_000019.10:29530442::G,NC_000019.10:29530442::T
      Gene:
      VSTM2B (Varview), LOC124904683 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      T=0.00016/1 (1000Genomes)
      HGVS:
      3.

      rs1491139851 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT [Show Flanks]
        Chromosome:
        19:29558085 (GRCh38)
        19:30048993 (GRCh37)
        Canonical SPDI:
        NC_000019.10:29558085:TGT:TGTGT
        Gene:
        VSTM2B (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGT=0./0 (ALFA)
        TG=0.000014/2 (GnomAD)
        TG=0.000023/6 (TOPMED)
        HGVS:
        4.

        rs1491082982 has merged into rs71171739 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          19:29556107 (GRCh38)
          19:30047014 (GRCh37)
          Canonical SPDI:
          NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          VSTM2B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAA=0./0 (ALFA)
          A=0.4286/1652 (ALSPAC)
          A=0.4358/1616 (TWINSUK)
          HGVS:
          5.

          rs1490951441 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            19:29554818 (GRCh38)
            19:30045725 (GRCh37)
            Canonical SPDI:
            NC_000019.10:29554817:GGG:GG
            Gene:
            VSTM2B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency
            MAF:
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490920368 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              19:29532365 (GRCh38)
              19:30023272 (GRCh37)
              Canonical SPDI:
              NC_000019.10:29532364:T:A
              Gene:
              VSTM2B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490678557 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:29526451 (GRCh38)
                19:30017358 (GRCh37)
                Canonical SPDI:
                NC_000019.10:29526450:C:T
                Gene:
                VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
                Functional Consequence:
                2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490677021 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  19:29524571 (GRCh38)
                  19:30015478 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:29524570:C:A,NC_000019.10:29524570:C:T
                  Gene:
                  VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  C=0.25/1 (SGDP_PRJ)
                  HGVS:
                  9.

                  rs1490565736 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    19:29525376 (GRCh38)
                    19:30016283 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:29525375:C:G,NC_000019.10:29525375:C:T
                    Gene:
                    VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490556244 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C,T [Show Flanks]
                      Chromosome:
                      19:29561176 (GRCh38)
                      19:30052083 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:29561175:G:C,NC_000019.10:29561175:G:T
                      Gene:
                      VSTM2B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1490540921 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        19:29560141 (GRCh38)
                        19:30051048 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:29560140:C:G
                        Gene:
                        VSTM2B (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:
                        12.

                        rs1490496100 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:29538255 (GRCh38)
                          19:30029162 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:29538254:G:A
                          Gene:
                          VSTM2B (Varview)
                          Functional Consequence:
                          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:
                          13.

                          rs1490471081 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:29539118 (GRCh38)
                            19:30030025 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:29539117:T:C
                            Gene:
                            VSTM2B (Varview)
                            Functional Consequence:
                            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:
                            14.

                            rs1490458047 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              19:29545696 (GRCh38)
                              19:30036603 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:29545695:A:G
                              Gene:
                              VSTM2B (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:
                              15.

                              rs1490398657 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                19:29539542 (GRCh38)
                                19:30030449 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:29539541:G:C
                                Gene:
                                VSTM2B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490331457 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  19:29537856 (GRCh38)
                                  19:30028763 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:29537855:C:A,NC_000019.10:29537855:C:T
                                  Gene:
                                  VSTM2B (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490214131 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    19:29559203 (GRCh38)
                                    19:30050110 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:29559202:G:T
                                    Gene:
                                    VSTM2B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490191508 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:29523508 (GRCh38)
                                      19:30014415 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:29523507:A:G
                                      Gene:
                                      VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490163051 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:29558247 (GRCh38)
                                        19:30049154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:29558246:T:C
                                        Gene:
                                        VSTM2B (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490022351 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:29546114 (GRCh38)
                                          19:30037021 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:29546113:G:A
                                          Gene:
                                          VSTM2B (Varview)
                                          Functional Consequence:
                                          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:

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