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1.

rs1491556576 has merged into rs58699057 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
    Chromosome:
    11:47588733 (GRCh38)
    11:47610285 (GRCh37)
    Canonical SPDI:
    NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588719:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
    Gene:
    FAM180B (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGTGTG=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.47588721TG[6], NC_000011.10:g.47588721TG[7], NC_000011.10:g.47588721TG[8], NC_000011.10:g.47588721TG[9], NC_000011.10:g.47588721TG[10], NC_000011.10:g.47588721TG[11], NC_000011.10:g.47588721TG[12], NC_000011.10:g.47588721TG[13], NC_000011.10:g.47588721TG[14], NC_000011.10:g.47588721TG[15], NC_000011.10:g.47588721TG[16], NC_000011.10:g.47588721TG[17], NC_000011.10:g.47588721TG[19], NC_000011.10:g.47588721TG[20], NC_000011.10:g.47588721TG[21], NC_000011.10:g.47588721TG[22], NC_000011.10:g.47588721TG[23], NC_000011.10:g.47588721TG[24], NC_000011.9:g.47610273TG[6], NC_000011.9:g.47610273TG[7], NC_000011.9:g.47610273TG[8], NC_000011.9:g.47610273TG[9], NC_000011.9:g.47610273TG[10], NC_000011.9:g.47610273TG[11], NC_000011.9:g.47610273TG[12], NC_000011.9:g.47610273TG[13], NC_000011.9:g.47610273TG[14], NC_000011.9:g.47610273TG[15], NC_000011.9:g.47610273TG[16], NC_000011.9:g.47610273TG[17], NC_000011.9:g.47610273TG[19], NC_000011.9:g.47610273TG[20], NC_000011.9:g.47610273TG[21], NC_000011.9:g.47610273TG[22], NC_000011.9:g.47610273TG[23], NC_000011.9:g.47610273TG[24], NW_019805496.1:g.16547TG[6], NW_019805496.1:g.16547TG[7], NW_019805496.1:g.16547TG[8], NW_019805496.1:g.16547TG[9], NW_019805496.1:g.16547TG[10], NW_019805496.1:g.16547TG[11], NW_019805496.1:g.16547TG[12], NW_019805496.1:g.16547TG[13], NW_019805496.1:g.16547TG[14], NW_019805496.1:g.16547TG[15], NW_019805496.1:g.16547TG[16], NW_019805496.1:g.16547TG[17], NW_019805496.1:g.16547TG[19], NW_019805496.1:g.16547TG[20], NW_019805496.1:g.16547TG[21], NW_019805496.1:g.16547TG[22], NW_019805496.1:g.16547TG[23], NW_019805496.1:g.16547TG[24], NM_001164379.3:c.*287TG[6], NM_001164379.3:c.*287TG[7], NM_001164379.3:c.*287TG[8], NM_001164379.3:c.*287TG[9], NM_001164379.3:c.*287TG[10], NM_001164379.3:c.*287TG[11], NM_001164379.3:c.*287TG[12], NM_001164379.3:c.*287TG[13], NM_001164379.3:c.*287TG[14], NM_001164379.3:c.*287TG[15], NM_001164379.3:c.*287TG[16], NM_001164379.3:c.*287TG[17], NM_001164379.3:c.*287TG[19], NM_001164379.3:c.*287TG[20], NM_001164379.3:c.*287TG[21], NM_001164379.3:c.*287TG[22], NM_001164379.3:c.*287TG[23], NM_001164379.3:c.*287TG[24], NM_001164379.2:c.*287TG[6], NM_001164379.2:c.*287TG[7], NM_001164379.2:c.*287TG[8], NM_001164379.2:c.*287TG[9], NM_001164379.2:c.*287TG[10], NM_001164379.2:c.*287TG[11], NM_001164379.2:c.*287TG[12], NM_001164379.2:c.*287TG[13], NM_001164379.2:c.*287TG[14], NM_001164379.2:c.*287TG[15], NM_001164379.2:c.*287TG[16], NM_001164379.2:c.*287TG[17], NM_001164379.2:c.*287TG[19], NM_001164379.2:c.*287TG[20], NM_001164379.2:c.*287TG[21], NM_001164379.2:c.*287TG[22], NM_001164379.2:c.*287TG[23], NM_001164379.2:c.*287TG[24], NM_001164379.1:c.*287TG[6], NM_001164379.1:c.*287TG[7], NM_001164379.1:c.*287TG[8], NM_001164379.1:c.*287TG[9], NM_001164379.1:c.*287TG[10], NM_001164379.1:c.*287TG[11], NM_001164379.1:c.*287TG[12], NM_001164379.1:c.*287TG[13], NM_001164379.1:c.*287TG[14], NM_001164379.1:c.*287TG[15], NM_001164379.1:c.*287TG[16], NM_001164379.1:c.*287TG[17], NM_001164379.1:c.*287TG[19], NM_001164379.1:c.*287TG[20], NM_001164379.1:c.*287TG[21], NM_001164379.1:c.*287TG[22], NM_001164379.1:c.*287TG[23], NM_001164379.1:c.*287TG[24], NM_001367968.1:c.*287TG[6], NM_001367968.1:c.*287TG[7], NM_001367968.1:c.*287TG[8], NM_001367968.1:c.*287TG[9], NM_001367968.1:c.*287TG[10], NM_001367968.1:c.*287TG[11], NM_001367968.1:c.*287TG[12], NM_001367968.1:c.*287TG[13], NM_001367968.1:c.*287TG[14], NM_001367968.1:c.*287TG[15], NM_001367968.1:c.*287TG[16], NM_001367968.1:c.*287TG[17], NM_001367968.1:c.*287TG[19], NM_001367968.1:c.*287TG[20], NM_001367968.1:c.*287TG[21], NM_001367968.1:c.*287TG[22], NM_001367968.1:c.*287TG[23], NM_001367968.1:c.*287TG[24], NM_001367966.1:c.*287TG[6], NM_001367966.1:c.*287TG[7], NM_001367966.1:c.*287TG[8], NM_001367966.1:c.*287TG[9], NM_001367966.1:c.*287TG[10], NM_001367966.1:c.*287TG[11], NM_001367966.1:c.*287TG[12], NM_001367966.1:c.*287TG[13], NM_001367966.1:c.*287TG[14], NM_001367966.1:c.*287TG[15], NM_001367966.1:c.*287TG[16], NM_001367966.1:c.*287TG[17], NM_001367966.1:c.*287TG[19], NM_001367966.1:c.*287TG[20], NM_001367966.1:c.*287TG[21], NM_001367966.1:c.*287TG[22], NM_001367966.1:c.*287TG[23], NM_001367966.1:c.*287TG[24], NM_001367967.1:c.*287TG[6], NM_001367967.1:c.*287TG[7], NM_001367967.1:c.*287TG[8], NM_001367967.1:c.*287TG[9], NM_001367967.1:c.*287TG[10], NM_001367967.1:c.*287TG[11], NM_001367967.1:c.*287TG[12], NM_001367967.1:c.*287TG[13], NM_001367967.1:c.*287TG[14], NM_001367967.1:c.*287TG[15], NM_001367967.1:c.*287TG[16], NM_001367967.1:c.*287TG[17], NM_001367967.1:c.*287TG[19], NM_001367967.1:c.*287TG[20], NM_001367967.1:c.*287TG[21], NM_001367967.1:c.*287TG[22], NM_001367967.1:c.*287TG[23], NM_001367967.1:c.*287TG[24]

    2.

    rs1491526721 has merged into rs146171408 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AG>-,AGAG,AGAGAG,AGAGTGTGTGTGTGAGAG [Show Flanks]
      Chromosome:
      11:47588719 (GRCh38)
      11:47610271 (GRCh37)
      Canonical SPDI:
      NC_000011.10:47588717:GAG:G,NC_000011.10:47588717:GAG:GAGAG,NC_000011.10:47588717:GAG:GAGAGAG,NC_000011.10:47588717:GAG:GAGAGTGTGTGTGTGAGAG
      Gene:
      FAM180B (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGAG=0./0 (ALFA)
      -=0.04912/246 (1000Genomes)
      GA=0.05/2 (GENOME_DK)
      GA=0.08451/48 (NorthernSweden)
      GA=0.15719/271 (Korea1K)
      HGVS:
      NC_000011.10:g.47588719_47588720del, NC_000011.10:g.47588719_47588720dup, NC_000011.10:g.47588719AG[3], NC_000011.10:g.47588718_47588720GA[2]GT[5]GA[2]G[1], NC_000011.9:g.47610271_47610272del, NC_000011.9:g.47610271_47610272dup, NC_000011.9:g.47610271AG[3], NC_000011.9:g.47610270_47610272GA[2]GT[5]GA[2]G[1], NW_019805496.1:g.16545_16546del, NW_019805496.1:g.16545_16546dup, NW_019805496.1:g.16545AG[3], NW_019805496.1:g.16544_16546GA[2]GT[5]GA[2]G[1], NM_001164379.3:c.*285_*286del, NM_001164379.3:c.*285_*286dup, NM_001164379.3:c.*285AG[3], NM_001164379.3:c.*284_*286GA[2]GT[5]GA[2]G[1], NM_001164379.2:c.*285_*286del, NM_001164379.2:c.*285_*286dup, NM_001164379.2:c.*285AG[3], NM_001164379.2:c.*284_*286GA[2]GT[5]GA[2]G[1], NM_001164379.1:c.*285_*286del, NM_001164379.1:c.*285_*286dup, NM_001164379.1:c.*285AG[3], NM_001164379.1:c.*284_*286GA[2]GT[5]GA[2]G[1], NM_001367968.1:c.*285_*286del, NM_001367968.1:c.*285_*286dup, NM_001367968.1:c.*285AG[3], NM_001367968.1:c.*284_*286GA[2]GT[5]GA[2]G[1], NM_001367966.1:c.*285_*286del, NM_001367966.1:c.*285_*286dup, NM_001367966.1:c.*285AG[3], NM_001367966.1:c.*284_*286GA[2]GT[5]GA[2]G[1], NM_001367967.1:c.*285_*286del, NM_001367967.1:c.*285_*286dup, NM_001367967.1:c.*285AG[3], NM_001367967.1:c.*284_*286GA[2]GT[5]GA[2]G[1]

      3.

      rs1491301143 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CA [Show Flanks]
        Chromosome:
        11:47588718 (GRCh38)
        11:47610271 (GRCh37)
        Canonical SPDI:
        NC_000011.10:47588718:A:ACA
        Gene:
        FAM180B (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACA=0./0 (ALFA)
        AC=0.000004/1 (TOPMED)
        AC=0.000037/1 (GnomAD)
        HGVS:

        4.

        rs1491248813 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GG>- [Show Flanks]
          Chromosome:
          11:47588756 (GRCh38)
          11:47610308 (GRCh37)
          Canonical SPDI:
          NC_000011.10:47588755:GG:
          Gene:
          FAM180B (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491040466 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G,GG [Show Flanks]
            Chromosome:
            11:47588755 (GRCh38)
            11:47610308 (GRCh37)
            Canonical SPDI:
            NC_000011.10:47588755:GG:GGG,NC_000011.10:47588755:GG:GGGG
            Gene:
            FAM180B (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by cluster
            MAF:
            GG=0.000008/1 (GnomAD)
            GG=0.001092/2 (Korea1K)
            HGVS:

            6.

            rs1490754651 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:47585734 (GRCh38)
              11:47607286 (GRCh37)
              Canonical SPDI:
              NC_000011.10:47585733:G:A
              Gene:
              FAM180B (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000021/3 (GnomAD)
              A=0.000023/6 (TOPMED)
              A=0.000142/4 (TOMMO)
              HGVS:

              7.

              rs1490556521 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G [Show Flanks]
                Chromosome:
                11:47588909 (GRCh38)
                11:47610461 (GRCh37)
                Canonical SPDI:
                NC_000011.10:47588908:C:A,NC_000011.10:47588908:C:G
                Gene:
                FAM180B (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490502192 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:47585945 (GRCh38)
                  11:47607497 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:47585944:C:T
                  Gene:
                  FAM180B (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  T=0.000342/1 (KOREAN)
                  T=0.000546/1 (Korea1K)
                  HGVS:

                  9.

                  rs1490475605 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:47587070 (GRCh38)
                    11:47608622 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:47587069:C:T
                    Gene:
                    FAM180B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000019/5 (TOPMED)
                    T=0.000029/4 (GnomAD)
                    HGVS:

                    10.

                    rs1490093626 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      11:47588374 (GRCh38)
                      11:47609926 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:47588373:C:A,NC_000011.10:47588373:C:T
                      Gene:
                      FAM180B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1489471831 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        11:47586848 (GRCh38)
                        11:47608400 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:47586847:A:T
                        Gene:
                        FAM180B (Varview)
                        Functional Consequence:
                        initiator_codon_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD_exomes)
                        T=0.000011/3 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1489216396 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:47587623 (GRCh38)
                          11:47609175 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:47587622:C:T
                          Gene:
                          FAM180B (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1489123225 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:47588099 (GRCh38)
                            11:47609651 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:47588098:C:G,NC_000011.10:47588098:C:T
                            Gene:
                            FAM180B (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,synonymous_variant
                            HGVS:

                            14.

                            rs1488665127 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              11:47584838 (GRCh38)
                              11:47606390 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:47584837:C:A,NC_000011.10:47584837:C:G
                              Gene:
                              NDUFS3 (Varview), FAM180B (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1487355254 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:47589384 (GRCh38)
                                11:47610936 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:47589383:G:C
                                Gene:
                                C1QTNF4 (Varview), FAM180B (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000342/1 (KOREAN)
                                HGVS:

                                16.

                                rs1487243973 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  11:47588715 (GRCh38)
                                  11:47610267 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:47588714:T:A
                                  Gene:
                                  FAM180B (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1486943424 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:47589404 (GRCh38)
                                    11:47610956 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:47589403:A:G
                                    Gene:
                                    C1QTNF4 (Varview), FAM180B (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1486307909 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:47586372 (GRCh38)
                                      11:47607924 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:47586371:C:T
                                      Gene:
                                      FAM180B (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1485497496 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:47588336 (GRCh38)
                                        11:47609888 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:47588335:G:A
                                        Gene:
                                        FAM180B (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000007/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1485191300 has merged into rs1379331772 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TG>-,TGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG [Show Flanks]
                                          Chromosome:
                                          11:47588717 (GRCh38)
                                          11:47610269 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:47588707:GTGTGTGTGTG:GTGTGTGTG,NC_000011.10:47588707:GTGTGTGTGTG:GTGTGTGTGTGTG,NC_000011.10:47588707:GTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000011.10:47588707:GTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000011.10:47588707:GTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG
                                          Gene:
                                          FAM180B (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GTGTGTGTGTGTG=0./0 (ALFA)
                                          HGVS:
                                          NC_000011.10:g.47588709TG[4], NC_000011.10:g.47588709TG[6], NC_000011.10:g.47588709TG[9], NC_000011.10:g.47588709TG[10], NC_000011.10:g.47588709TG[11], NC_000011.9:g.47610261TG[4], NC_000011.9:g.47610261TG[6], NC_000011.9:g.47610261TG[9], NC_000011.9:g.47610261TG[10], NC_000011.9:g.47610261TG[11], NW_019805496.1:g.16535TG[4], NW_019805496.1:g.16535TG[6], NW_019805496.1:g.16535TG[9], NW_019805496.1:g.16535TG[10], NW_019805496.1:g.16535TG[11], NM_001164379.3:c.*275TG[4], NM_001164379.3:c.*275TG[6], NM_001164379.3:c.*275TG[9], NM_001164379.3:c.*275TG[10], NM_001164379.3:c.*275TG[11], NM_001164379.2:c.*275TG[4], NM_001164379.2:c.*275TG[6], NM_001164379.2:c.*275TG[9], NM_001164379.2:c.*275TG[10], NM_001164379.2:c.*275TG[11], NM_001164379.1:c.*275TG[4], NM_001164379.1:c.*275TG[6], NM_001164379.1:c.*275TG[9], NM_001164379.1:c.*275TG[10], NM_001164379.1:c.*275TG[11], NM_001367968.1:c.*275TG[4], NM_001367968.1:c.*275TG[6], NM_001367968.1:c.*275TG[9], NM_001367968.1:c.*275TG[10], NM_001367968.1:c.*275TG[11], NM_001367966.1:c.*275TG[4], NM_001367966.1:c.*275TG[6], NM_001367966.1:c.*275TG[9], NM_001367966.1:c.*275TG[10], NM_001367966.1:c.*275TG[11], NM_001367967.1:c.*275TG[4], NM_001367967.1:c.*275TG[6], NM_001367967.1:c.*275TG[9], NM_001367967.1:c.*275TG[10], NM_001367967.1:c.*275TG[11]

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