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Items: 1 to 20 of 870

1.

rs1490506062 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    14:20918240 (GRCh38)
    14:21386399 (GRCh37)
    Canonical SPDI:
    NC_000014.9:20918239:T:A
    Gene:
    RNASE2CP (Varview), LOC100507513 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000015/4 (TOPMED)
    A=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1489948352 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      14:20917474 (GRCh38)
      14:21385633 (GRCh37)
      Canonical SPDI:
      NC_000014.9:20917473:C:G,NC_000014.9:20917473:C:T
      Gene:
      RNASE2CP (Varview), LOC100507513 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000007/1 (GnomAD)
      T=0.000035/1 (TOMMO)
      T=0.001027/3 (KOREAN)
      HGVS:
      3.

      rs1488162656 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        14:20920292 (GRCh38)
        14:21388451 (GRCh37)
        Canonical SPDI:
        NC_000014.9:20920291:G:C,NC_000014.9:20920291:G:T
        Gene:
        RNASE2CP (Varview), LOC100507513 (Varview)
        Functional Consequence:
        intron_variant,500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1487637155 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:20917593 (GRCh38)
          14:21385752 (GRCh37)
          Canonical SPDI:
          NC_000014.9:20917592:A:G
          Gene:
          RNASE2CP (Varview), LOC100507513 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1486543389 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:20919879 (GRCh38)
            14:21388038 (GRCh37)
            Canonical SPDI:
            NC_000014.9:20919878:T:C
            Gene:
            RNASE2CP (Varview), LOC100507513 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1485323776 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              14:20918439 (GRCh38)
              14:21386598 (GRCh37)
              Canonical SPDI:
              NC_000014.9:20918438:A:C,NC_000014.9:20918438:A:G
              Gene:
              RNASE2CP (Varview), LOC100507513 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1484906015 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:20918524 (GRCh38)
                14:21386683 (GRCh37)
                Canonical SPDI:
                NC_000014.9:20918523:C:T
                Gene:
                RNASE2CP (Varview), LOC100507513 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000029/4 (GnomAD)
                T=0.000248/4 (TOMMO)
                T=0.000546/1 (Korea1K)
                HGVS:
                8.

                rs1484634910 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  14:20917485 (GRCh38)
                  14:21385644 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:20917484:G:C
                  Gene:
                  RNASE2CP (Varview), LOC100507513 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000022/3 (GnomAD)
                  HGVS:
                  9.

                  rs1483804223 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:20920115 (GRCh38)
                    14:21388274 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:20920114:C:T
                    Gene:
                    RNASE2CP (Varview), LOC100507513 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1482050169 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TG>- [Show Flanks]
                      Chromosome:
                      14:20919238 (GRCh38)
                      14:21387397 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:20919235:TGTG:TG
                      Gene:
                      RNASE2CP (Varview), LOC100507513 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1481559573 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:20918369 (GRCh38)
                        14:21386528 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:20918368:C:T
                        Gene:
                        RNASE2CP (Varview), LOC100507513 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1481508242 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          14:20917378 (GRCh38)
                          14:21385537 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:20917377:G:C
                          Gene:
                          RNASE2CP (Varview), LOC100507513 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1481409241 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:20918193 (GRCh38)
                            14:21386352 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:20918192:T:C
                            Gene:
                            RNASE2CP (Varview), LOC100507513 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000014/2 (GnomAD)
                            C=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1480119187 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              14:20918248 (GRCh38)
                              14:21386407 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:20918247:G:T
                              Gene:
                              RNASE2CP (Varview), LOC100507513 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000084/1 (ALFA)
                              T=0.00015/20 (GnomAD)
                              HGVS:
                              15.

                              rs1478308491 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:20918025 (GRCh38)
                                14:21386184 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:20918024:A:G
                                Gene:
                                RNASE2CP (Varview), LOC100507513 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1477636285 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GC>- [Show Flanks]
                                  Chromosome:
                                  14:20920013 (GRCh38)
                                  14:21388172 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:20920010:GCGC:GC
                                  Gene:
                                  RNASE2CP (Varview), LOC100507513 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GCGC=0./0 (ALFA)
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1475031110 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:20917692 (GRCh38)
                                    14:21385851 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:20917691:C:T
                                    Gene:
                                    RNASE2CP (Varview), LOC100507513 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1474902717 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      14:20917542 (GRCh38)
                                      14:21385701 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:20917541:C:A,NC_000014.9:20917541:C:T
                                      Gene:
                                      RNASE2CP (Varview), LOC100507513 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1473563972 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:20919230 (GRCh38)
                                        14:21387389 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:20919229:T:C
                                        Gene:
                                        RNASE2CP (Varview), LOC100507513 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_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)
                                        C=0.000142/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1471111319 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C,G [Show Flanks]
                                          Chromosome:
                                          14:20919553 (GRCh38)
                                          14:21387712 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:20919552:T:A,NC_000014.9:20919552:T:C,NC_000014.9:20919552:T:G
                                          Gene:
                                          RNASE2CP (Varview), LOC100507513 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.009346/2 (Vietnamese)
                                          HGVS:

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