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Items: 1 to 20 of 312

1.

rs1491532041 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CACACACG,CACATG,CACG [Show Flanks]
    Chromosome:
    11:93478753 (GRCh38)
    11:93211920 (GRCh37)
    Canonical SPDI:
    NC_000011.10:93478753::CACACACG,NC_000011.10:93478753::CACATG,NC_000011.10:93478753::CACG
    Gene:
    SMCO4 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    CACATG=0./0 (ALFA)
    HGVS:
    NC_000011.10:g.93478753_93478754insCACACACG, NC_000011.10:g.93478753_93478754insCACATG, NC_000011.10:g.93478753_93478754insCACG, NC_000011.9:g.93211919_93211920insCACACACG, NC_000011.9:g.93211919_93211920insCACATG, NC_000011.9:g.93211919_93211920insCACG, XM_011542911.3:c.*116_*117insCGTGTGTG, XM_011542911.3:c.*116_*117insCATGTG, XM_011542911.3:c.*116_*117insCGTG, XM_011542911.2:c.*116_*117insCGTGTGTG, XM_011542911.2:c.*116_*117insCATGTG, XM_011542911.2:c.*116_*117insCGTG, XM_011542911.1:c.*116_*117insCGTGTGTG, XM_011542911.1:c.*116_*117insCATGTG, XM_011542911.1:c.*116_*117insCGTG, NM_020179.3:c.*256_*257insCGTGTGTG, NM_020179.3:c.*256_*257insCATGTG, NM_020179.3:c.*256_*257insCGTG, NM_020179.2:c.*256_*257insCGTGTGTG, NM_020179.2:c.*256_*257insCATGTG, NM_020179.2:c.*256_*257insCGTG, XM_017018020.1:c.*116_*117insCGTGTGTG, XM_017018020.1:c.*116_*117insCATGTG, XM_017018020.1:c.*116_*117insCGTG, XM_047427266.1:c.*116_*117insCGTGTGTG, XM_047427266.1:c.*116_*117insCATGTG, XM_047427266.1:c.*116_*117insCGTG, XM_011542907.1:c.*116_*117insCGTGTGTG, XM_011542907.1:c.*116_*117insCATGTG, XM_011542907.1:c.*116_*117insCGTG, XM_011542909.1:c.*116_*117insCGTGTGTG, XM_011542909.1:c.*116_*117insCATGTG, XM_011542909.1:c.*116_*117insCGTG

    2.

    rs1491465409 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TACA [Show Flanks]
      Chromosome:
      11:93478714 (GRCh38)
      11:93211881 (GRCh37)
      Canonical SPDI:
      NC_000011.10:93478714:ACA:ACATACA
      Gene:
      SMCO4 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      ACAT=0.004/1 (GnomAD)
      HGVS:

      3.

      rs1491124702 has merged into rs58177836 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
        Chromosome:
        11:93478726 (GRCh38)
        11:93211892 (GRCh37)
        Canonical SPDI:
        NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:93478713:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
        Gene:
        SMCO4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CACACACACACA=0./0 (ALFA)
        HGVS:
        NC_000011.10:g.93478714CA[6], NC_000011.10:g.93478714CA[8], NC_000011.10:g.93478714CA[9], NC_000011.10:g.93478714CA[10], NC_000011.10:g.93478714CA[11], NC_000011.10:g.93478714CA[12], NC_000011.10:g.93478714CA[13], NC_000011.10:g.93478714CA[14], NC_000011.10:g.93478714CA[15], NC_000011.10:g.93478714CA[16], NC_000011.10:g.93478714CA[17], NC_000011.10:g.93478714CA[18], NC_000011.10:g.93478714CA[19], NC_000011.10:g.93478714CA[21], NC_000011.10:g.93478714CA[22], NC_000011.10:g.93478714CA[23], NC_000011.10:g.93478714CA[24], NC_000011.10:g.93478714CA[25], NC_000011.10:g.93478714CA[26], NC_000011.10:g.93478714CA[27], NC_000011.10:g.93478714CA[30], NC_000011.10:g.93478714CA[33], NC_000011.9:g.93211880CA[6], NC_000011.9:g.93211880CA[8], NC_000011.9:g.93211880CA[9], NC_000011.9:g.93211880CA[10], NC_000011.9:g.93211880CA[11], NC_000011.9:g.93211880CA[12], NC_000011.9:g.93211880CA[13], NC_000011.9:g.93211880CA[14], NC_000011.9:g.93211880CA[15], NC_000011.9:g.93211880CA[16], NC_000011.9:g.93211880CA[17], NC_000011.9:g.93211880CA[18], NC_000011.9:g.93211880CA[19], NC_000011.9:g.93211880CA[21], NC_000011.9:g.93211880CA[22], NC_000011.9:g.93211880CA[23], NC_000011.9:g.93211880CA[24], NC_000011.9:g.93211880CA[25], NC_000011.9:g.93211880CA[26], NC_000011.9:g.93211880CA[27], NC_000011.9:g.93211880CA[30], NC_000011.9:g.93211880CA[33], XM_011542911.3:c.*117TG[6], XM_011542911.3:c.*117TG[8], XM_011542911.3:c.*117TG[9], XM_011542911.3:c.*117TG[10], XM_011542911.3:c.*117TG[11], XM_011542911.3:c.*117TG[12], XM_011542911.3:c.*117TG[13], XM_011542911.3:c.*117TG[14], XM_011542911.3:c.*117TG[15], XM_011542911.3:c.*117TG[16], XM_011542911.3:c.*117TG[17], XM_011542911.3:c.*117TG[18], XM_011542911.3:c.*117TG[19], XM_011542911.3:c.*117TG[21], XM_011542911.3:c.*117TG[22], XM_011542911.3:c.*117TG[23], XM_011542911.3:c.*117TG[24], XM_011542911.3:c.*117TG[25], XM_011542911.3:c.*117TG[26], XM_011542911.3:c.*117TG[27], XM_011542911.3:c.*117TG[30], XM_011542911.3:c.*117TG[33], XM_011542911.2:c.*117TG[6], XM_011542911.2:c.*117TG[8], XM_011542911.2:c.*117TG[9], XM_011542911.2:c.*117TG[10], XM_011542911.2:c.*117TG[11], XM_011542911.2:c.*117TG[12], XM_011542911.2:c.*117TG[13], XM_011542911.2:c.*117TG[14], XM_011542911.2:c.*117TG[15], XM_011542911.2:c.*117TG[16], XM_011542911.2:c.*117TG[17], XM_011542911.2:c.*117TG[18], XM_011542911.2:c.*117TG[19], XM_011542911.2:c.*117TG[21], XM_011542911.2:c.*117TG[22], XM_011542911.2:c.*117TG[23], XM_011542911.2:c.*117TG[24], XM_011542911.2:c.*117TG[25], XM_011542911.2:c.*117TG[26], XM_011542911.2:c.*117TG[27], XM_011542911.2:c.*117TG[30], XM_011542911.2:c.*117TG[33], XM_011542911.1:c.*117TG[6], XM_011542911.1:c.*117TG[8], XM_011542911.1:c.*117TG[9], XM_011542911.1:c.*117TG[10], XM_011542911.1:c.*117TG[11], XM_011542911.1:c.*117TG[12], XM_011542911.1:c.*117TG[13], XM_011542911.1:c.*117TG[14], XM_011542911.1:c.*117TG[15], XM_011542911.1:c.*117TG[16], XM_011542911.1:c.*117TG[17], XM_011542911.1:c.*117TG[18], XM_011542911.1:c.*117TG[19], XM_011542911.1:c.*117TG[21], XM_011542911.1:c.*117TG[22], XM_011542911.1:c.*117TG[23], XM_011542911.1:c.*117TG[24], XM_011542911.1:c.*117TG[25], XM_011542911.1:c.*117TG[26], XM_011542911.1:c.*117TG[27], XM_011542911.1:c.*117TG[30], XM_011542911.1:c.*117TG[33], NM_020179.3:c.*257TG[6], NM_020179.3:c.*257TG[8], NM_020179.3:c.*257TG[9], NM_020179.3:c.*257TG[10], NM_020179.3:c.*257TG[11], NM_020179.3:c.*257TG[12], NM_020179.3:c.*257TG[13], NM_020179.3:c.*257TG[14], NM_020179.3:c.*257TG[15], NM_020179.3:c.*257TG[16], NM_020179.3:c.*257TG[17], NM_020179.3:c.*257TG[18], NM_020179.3:c.*257TG[19], NM_020179.3:c.*257TG[21], NM_020179.3:c.*257TG[22], NM_020179.3:c.*257TG[23], NM_020179.3:c.*257TG[24], NM_020179.3:c.*257TG[25], NM_020179.3:c.*257TG[26], NM_020179.3:c.*257TG[27], NM_020179.3:c.*257TG[30], NM_020179.3:c.*257TG[33], NM_020179.2:c.*257TG[6], NM_020179.2:c.*257TG[8], NM_020179.2:c.*257TG[9], NM_020179.2:c.*257TG[10], NM_020179.2:c.*257TG[11], NM_020179.2:c.*257TG[12], NM_020179.2:c.*257TG[13], NM_020179.2:c.*257TG[14], NM_020179.2:c.*257TG[15], NM_020179.2:c.*257TG[16], NM_020179.2:c.*257TG[17], NM_020179.2:c.*257TG[18], NM_020179.2:c.*257TG[19], NM_020179.2:c.*257TG[21], NM_020179.2:c.*257TG[22], NM_020179.2:c.*257TG[23], NM_020179.2:c.*257TG[24], NM_020179.2:c.*257TG[25], NM_020179.2:c.*257TG[26], NM_020179.2:c.*257TG[27], NM_020179.2:c.*257TG[30], NM_020179.2:c.*257TG[33], XM_017018020.1:c.*117TG[6], XM_017018020.1:c.*117TG[8], XM_017018020.1:c.*117TG[9], XM_017018020.1:c.*117TG[10], XM_017018020.1:c.*117TG[11], XM_017018020.1:c.*117TG[12], XM_017018020.1:c.*117TG[13], XM_017018020.1:c.*117TG[14], XM_017018020.1:c.*117TG[15], XM_017018020.1:c.*117TG[16], XM_017018020.1:c.*117TG[17], XM_017018020.1:c.*117TG[18], XM_017018020.1:c.*117TG[19], XM_017018020.1:c.*117TG[21], XM_017018020.1:c.*117TG[22], XM_017018020.1:c.*117TG[23], XM_017018020.1:c.*117TG[24], XM_017018020.1:c.*117TG[25], XM_017018020.1:c.*117TG[26], XM_017018020.1:c.*117TG[27], XM_017018020.1:c.*117TG[30], XM_017018020.1:c.*117TG[33], XM_047427266.1:c.*117TG[6], XM_047427266.1:c.*117TG[8], XM_047427266.1:c.*117TG[9], XM_047427266.1:c.*117TG[10], XM_047427266.1:c.*117TG[11], XM_047427266.1:c.*117TG[12], XM_047427266.1:c.*117TG[13], XM_047427266.1:c.*117TG[14], XM_047427266.1:c.*117TG[15], XM_047427266.1:c.*117TG[16], XM_047427266.1:c.*117TG[17], XM_047427266.1:c.*117TG[18], XM_047427266.1:c.*117TG[19], XM_047427266.1:c.*117TG[21], XM_047427266.1:c.*117TG[22], XM_047427266.1:c.*117TG[23], XM_047427266.1:c.*117TG[24], XM_047427266.1:c.*117TG[25], XM_047427266.1:c.*117TG[26], XM_047427266.1:c.*117TG[27], XM_047427266.1:c.*117TG[30], XM_047427266.1:c.*117TG[33], XM_011542907.1:c.*117TG[6], XM_011542907.1:c.*117TG[8], XM_011542907.1:c.*117TG[9], XM_011542907.1:c.*117TG[10], XM_011542907.1:c.*117TG[11], XM_011542907.1:c.*117TG[12], XM_011542907.1:c.*117TG[13], XM_011542907.1:c.*117TG[14], XM_011542907.1:c.*117TG[15], XM_011542907.1:c.*117TG[16], XM_011542907.1:c.*117TG[17], XM_011542907.1:c.*117TG[18], XM_011542907.1:c.*117TG[19], XM_011542907.1:c.*117TG[21], XM_011542907.1:c.*117TG[22], XM_011542907.1:c.*117TG[23], XM_011542907.1:c.*117TG[24], XM_011542907.1:c.*117TG[25], XM_011542907.1:c.*117TG[26], XM_011542907.1:c.*117TG[27], XM_011542907.1:c.*117TG[30], XM_011542907.1:c.*117TG[33], XM_011542909.1:c.*117TG[6], XM_011542909.1:c.*117TG[8], XM_011542909.1:c.*117TG[9], XM_011542909.1:c.*117TG[10], XM_011542909.1:c.*117TG[11], XM_011542909.1:c.*117TG[12], XM_011542909.1:c.*117TG[13], XM_011542909.1:c.*117TG[14], XM_011542909.1:c.*117TG[15], XM_011542909.1:c.*117TG[16], XM_011542909.1:c.*117TG[17], XM_011542909.1:c.*117TG[18], XM_011542909.1:c.*117TG[19], XM_011542909.1:c.*117TG[21], XM_011542909.1:c.*117TG[22], XM_011542909.1:c.*117TG[23], XM_011542909.1:c.*117TG[24], XM_011542909.1:c.*117TG[25], XM_011542909.1:c.*117TG[26], XM_011542909.1:c.*117TG[27], XM_011542909.1:c.*117TG[30], XM_011542909.1:c.*117TG[33]

        4.

        rs1485850992 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:93478942 (GRCh38)
          11:93212108 (GRCh37)
          Canonical SPDI:
          NC_000011.10:93478941:T:C
          Gene:
          SMCO4 (Varview)
          Functional Consequence:
          coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1484589100 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            11:93553902 (GRCh38)
            11:93287068 (GRCh37)
            Canonical SPDI:
            NC_000011.10:93553901:T:C,NC_000011.10:93553901:T:G
            Gene:
            SMCO4 (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000019/5 (TOPMED)
            HGVS:

            6.

            rs1482947922 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              11:93499329 (GRCh38)
              11:93232495 (GRCh37)
              Canonical SPDI:
              NC_000011.10:93499328:A:T
              Gene:
              SMCO4 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,coding_sequence_variant,stop_gained
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1480654831 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:93479237 (GRCh38)
                11:93212403 (GRCh37)
                Canonical SPDI:
                NC_000011.10:93479236:G:A
                Gene:
                SMCO4 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1478391664 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:93553935 (GRCh38)
                  11:93287101 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:93553934:C:T
                  Gene:
                  SMCO4 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1475017310 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:93478668 (GRCh38)
                    11:93211834 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:93478667:C:T
                    Gene:
                    SMCO4 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1474057494 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:93479031 (GRCh38)
                      11:93212197 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:93479030:C:T
                      Gene:
                      SMCO4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000015/4 (TOPMED)
                      HGVS:

                      11.

                      rs1473112065 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        11:93553917 (GRCh38)
                        11:93287083 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:93553916:T:A
                        Gene:
                        SMCO4 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1473006510 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:93499315 (GRCh38)
                          11:93232481 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:93499314:A:G
                          Gene:
                          SMCO4 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          G=0.000015/4 (TOPMED)
                          HGVS:

                          13.

                          rs1472314867 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->GTTC
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1469948716 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              11:93478742 (GRCh38)
                              11:93211908 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:93478741:C:A,NC_000011.10:93478741:C:G,NC_000011.10:93478741:C:T
                              Gene:
                              SMCO4 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              G=0.000468/3 (1000Genomes)
                              HGVS:
                              NC_000011.10:g.93478742C>A, NC_000011.10:g.93478742C>G, NC_000011.10:g.93478742C>T, NC_000011.9:g.93211908C>A, NC_000011.9:g.93211908C>G, NC_000011.9:g.93211908C>T, XM_011542911.3:c.*128G>T, XM_011542911.3:c.*128G>C, XM_011542911.3:c.*128G>A, XM_011542911.2:c.*128G>T, XM_011542911.2:c.*128G>C, XM_011542911.2:c.*128G>A, XM_011542911.1:c.*128G>T, XM_011542911.1:c.*128G>C, XM_011542911.1:c.*128G>A, NM_020179.3:c.*268G>T, NM_020179.3:c.*268G>C, NM_020179.3:c.*268G>A, NM_020179.2:c.*268G>T, NM_020179.2:c.*268G>C, NM_020179.2:c.*268G>A, XM_017018020.1:c.*128G>T, XM_017018020.1:c.*128G>C, XM_017018020.1:c.*128G>A, XM_047427266.1:c.*128G>T, XM_047427266.1:c.*128G>C, XM_047427266.1:c.*128G>A, XM_011542907.1:c.*128G>T, XM_011542907.1:c.*128G>C, XM_011542907.1:c.*128G>A, XM_011542909.1:c.*128G>T, XM_011542909.1:c.*128G>C, XM_011542909.1:c.*128G>A

                              15.

                              rs1452024816 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:93479103 (GRCh38)
                                11:93212269 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:93479102:C:T
                                Gene:
                                SMCO4 (Varview)
                                Functional Consequence:
                                missense_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1451024122 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:93553898 (GRCh38)
                                  11:93287064 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:93553897:G:A
                                  Gene:
                                  SMCO4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1450293205 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->TACA [Show Flanks]
                                    Chromosome:
                                    11:93478720 (GRCh38)
                                    11:93211887 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:93478720:ACA:ACATACA
                                    Gene:
                                    SMCO4 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    ACATACA=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1447765490 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      11:93478801 (GRCh38)
                                      11:93211967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:93478800:G:T
                                      Gene:
                                      SMCO4 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1447033273 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        11:93553976 (GRCh38)
                                        11:93287142 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:93553975:T:A
                                        Gene:
                                        SMCO4 (Varview)
                                        Functional Consequence:
                                        initiator_codon_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1444405062 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:93478745 (GRCh38)
                                          11:93211911 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:93478744:A:G
                                          Gene:
                                          SMCO4 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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