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Items: 1 to 20 of 5720

1.

rs1491292977 has merged into rs71380102 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    9:127907074 (GRCh38)
    9:130669353 (GRCh37)
    Canonical SPDI:
    NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127907063:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTT=0./0 (ALFA)
    T=0.0003/1 (TWINSUK)
    T=0.0008/3 (ALSPAC)
    T=0.1975/989 (1000Genomes)
    T=0.325/13 (GENOME_DK)
    HGVS:

    2.

    rs1491231921 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      9:127902990 (GRCh38)
      9:130665269 (GRCh37)
      Canonical SPDI:
      NC_000009.12:127902989:CT:
      Gene:
      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:

      3.

      rs1491180103 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TTTTTTTTTTTTTTTTTTTTTTTG
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491175458 has merged into rs10551658 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          9:127903001 (GRCh38)
          9:130665280 (GRCh37)
          Canonical SPDI:
          NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          TT=0.425/17 (GENOME_DK)
          HGVS:
          NC_000009.12:g.127903001_127903014del, NC_000009.12:g.127903002_127903014del, NC_000009.12:g.127903004_127903014del, NC_000009.12:g.127903006_127903014del, NC_000009.12:g.127903009_127903014del, NC_000009.12:g.127903010_127903014del, NC_000009.12:g.127903011_127903014del, NC_000009.12:g.127903012_127903014del, NC_000009.12:g.127903013_127903014del, NC_000009.12:g.127903014del, NC_000009.12:g.127903014dup, NC_000009.12:g.127903013_127903014dup, NC_000009.12:g.127903012_127903014dup, NC_000009.12:g.127903011_127903014dup, NC_000009.12:g.127903010_127903014dup, NC_000009.12:g.127903009_127903014dup, NC_000009.12:g.127903008_127903014dup, NC_000009.12:g.127903006_127903014dup, NC_000009.12:g.127903014_127903015insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.127903014_127903015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130665280_130665293del, NC_000009.11:g.130665281_130665293del, NC_000009.11:g.130665283_130665293del, NC_000009.11:g.130665285_130665293del, NC_000009.11:g.130665288_130665293del, NC_000009.11:g.130665289_130665293del, NC_000009.11:g.130665290_130665293del, NC_000009.11:g.130665291_130665293del, NC_000009.11:g.130665292_130665293del, NC_000009.11:g.130665293del, NC_000009.11:g.130665293dup, NC_000009.11:g.130665292_130665293dup, NC_000009.11:g.130665291_130665293dup, NC_000009.11:g.130665290_130665293dup, NC_000009.11:g.130665289_130665293dup, NC_000009.11:g.130665288_130665293dup, NC_000009.11:g.130665287_130665293dup, NC_000009.11:g.130665285_130665293dup, NC_000009.11:g.130665293_130665294insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130665293_130665294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491157312 has merged into rs10551658 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            9:127903001 (GRCh38)
            9:130665280 (GRCh37)
            Canonical SPDI:
            NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:127902990:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            TT=0.425/17 (GENOME_DK)
            HGVS:
            NC_000009.12:g.127903001_127903014del, NC_000009.12:g.127903002_127903014del, NC_000009.12:g.127903004_127903014del, NC_000009.12:g.127903006_127903014del, NC_000009.12:g.127903009_127903014del, NC_000009.12:g.127903010_127903014del, NC_000009.12:g.127903011_127903014del, NC_000009.12:g.127903012_127903014del, NC_000009.12:g.127903013_127903014del, NC_000009.12:g.127903014del, NC_000009.12:g.127903014dup, NC_000009.12:g.127903013_127903014dup, NC_000009.12:g.127903012_127903014dup, NC_000009.12:g.127903011_127903014dup, NC_000009.12:g.127903010_127903014dup, NC_000009.12:g.127903009_127903014dup, NC_000009.12:g.127903008_127903014dup, NC_000009.12:g.127903006_127903014dup, NC_000009.12:g.127903014_127903015insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.127903014_127903015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130665280_130665293del, NC_000009.11:g.130665281_130665293del, NC_000009.11:g.130665283_130665293del, NC_000009.11:g.130665285_130665293del, NC_000009.11:g.130665288_130665293del, NC_000009.11:g.130665289_130665293del, NC_000009.11:g.130665290_130665293del, NC_000009.11:g.130665291_130665293del, NC_000009.11:g.130665292_130665293del, NC_000009.11:g.130665293del, NC_000009.11:g.130665293dup, NC_000009.11:g.130665292_130665293dup, NC_000009.11:g.130665291_130665293dup, NC_000009.11:g.130665290_130665293dup, NC_000009.11:g.130665289_130665293dup, NC_000009.11:g.130665288_130665293dup, NC_000009.11:g.130665287_130665293dup, NC_000009.11:g.130665285_130665293dup, NC_000009.11:g.130665293_130665294insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.130665293_130665294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1490871024 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              9:127886348 (GRCh38)
              9:130648627 (GRCh37)
              Canonical SPDI:
              NC_000009.12:127886347:T:G
              Gene:
              ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000011/3 (TOPMED)
              HGVS:
              NC_000009.12:g.127886348T>G, NC_000009.11:g.130648627T>G, NM_013443.5:c.*251A>C, NM_013443.4:c.*251A>C, NM_013443.3:c.*251A>C, NM_001287001.2:c.*251A>C, NM_001287001.1:c.*251A>C, NM_001286999.2:c.*124A>C, NM_001286999.1:c.*124A>C, NM_001287002.2:c.*251A>C, NM_001287002.1:c.*251A>C, NM_001287000.2:c.*251A>C, NM_001287000.1:c.*251A>C, NR_104629.2:n.1322A>C, NR_104629.1:n.1346A>C, NM_001287003.2:c.*483A>C, NM_001287003.1:c.*483A>C, NR_174625.1:n.2125A>C, NR_174627.1:n.2005A>C, NR_174626.1:n.2005A>C, NR_174632.1:n.1398A>C, NR_174628.1:n.1383A>C, NR_174630.1:n.1364A>C, NR_174629.1:n.1328A>C, NR_174631.1:n.1309A>C, NR_174621.1:n.2060A>C, NR_174624.1:n.2042A>C, NR_174623.1:n.2042A>C, NM_001388489.1:c.*251A>C, NR_174620.1:n.2001A>C, NR_174618.1:n.1986A>C, NR_174619.1:n.1943A>C, NM_001400830.1:c.*251A>C, NM_001400831.1:c.*251A>C, NM_001400834.1:c.*124A>C, NM_001400835.1:c.*124A>C, NR_174615.1:n.1364A>C, NM_001400833.1:c.*124A>C, NR_174616.1:n.1321A>C, NR_174612.1:n.1317A>C, NR_174617.1:n.1309A>C, NR_174613.1:n.1302A>C, NR_174614.1:n.1266A>C, NM_001400832.1:c.*483A>C

              7.

              rs1490795099 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                9:127900548 (GRCh38)
                9:130662827 (GRCh37)
                Canonical SPDI:
                NC_000009.12:127900547:G:A,NC_000009.12:127900547:G:T
                Gene:
                ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.00025/4 (ALFA)
                T=0.00004/3 (GnomAD)
                T=0.00061/10 (TOMMO)
                T=0.00092/4 (Estonian)
                T=0.00281/18 (1000Genomes)
                HGVS:

                8.

                rs1490713742 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:127896058 (GRCh38)
                  9:130658337 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:127896057:C:T
                  Gene:
                  ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1490671373 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:127888198 (GRCh38)
                    9:130650477 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:127888197:C:T
                    Gene:
                    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490623479 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:127901748 (GRCh38)
                      9:130664027 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:127901747:A:G
                      Gene:
                      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000015/4 (TOPMED)
                      HGVS:

                      11.

                      rs1490471032 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:127887621 (GRCh38)
                        9:130649900 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:127887620:C:T
                        Gene:
                        ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000014/3 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1490327846 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          9:127886035 (GRCh38)
                          9:130648314 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:127886034:G:C
                          Gene:
                          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000009.12:g.127886035G>C, NC_000009.11:g.130648314G>C, NM_013443.5:c.*564C>G, NM_013443.4:c.*564C>G, NM_013443.3:c.*564C>G, NM_001287001.2:c.*564C>G, NM_001287001.1:c.*564C>G, NM_001286999.2:c.*437C>G, NM_001286999.1:c.*437C>G, NM_001287002.2:c.*564C>G, NM_001287002.1:c.*564C>G, NM_001287000.2:c.*564C>G, NM_001287000.1:c.*564C>G, NR_104629.2:n.1635C>G, NR_104629.1:n.1659C>G, NM_001287003.2:c.*796C>G, NM_001287003.1:c.*796C>G, NR_174625.1:n.2438C>G, NR_174627.1:n.2318C>G, NR_174626.1:n.2318C>G, NR_174632.1:n.1711C>G, NR_174628.1:n.1696C>G, NR_174630.1:n.1677C>G, NR_174629.1:n.1641C>G, NR_174631.1:n.1622C>G, NR_174621.1:n.2373C>G, NR_174624.1:n.2355C>G, NR_174623.1:n.2355C>G, NM_001388489.1:c.*564C>G, NR_174620.1:n.2314C>G, NR_174618.1:n.2299C>G, NR_174619.1:n.2256C>G, NM_001400830.1:c.*564C>G, NM_001400831.1:c.*564C>G, NM_001400834.1:c.*437C>G, NM_001400835.1:c.*437C>G, NR_174615.1:n.1677C>G, NM_001400833.1:c.*437C>G, NR_174616.1:n.1634C>G, NR_174612.1:n.1630C>G, NR_174617.1:n.1622C>G, NR_174613.1:n.1615C>G, NR_174614.1:n.1579C>G, NM_001400832.1:c.*796C>G

                          13.

                          rs1490240396 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:127904765 (GRCh38)
                            9:130667044 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:127904764:A:G
                            Gene:
                            ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            HGVS:

                            14.

                            rs1489940804 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:127890264 (GRCh38)
                              9:130652543 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:127890263:C:T
                              Gene:
                              ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000021/3 (GnomAD)
                              T=0.00003/8 (TOPMED)
                              HGVS:

                              15.

                              rs1489889198 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:127888577 (GRCh38)
                                9:130650856 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:127888576:G:A
                                Gene:
                                ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000036/5 (GnomAD)
                                HGVS:

                                16.

                                rs1489847405 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:127904007 (GRCh38)
                                  9:130666286 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:127904006:T:A
                                  Gene:
                                  ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489451813 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:127888840 (GRCh38)
                                    9:130651119 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:127888839:A:C
                                    Gene:
                                    ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000084/1 (ALFA)
                                    C=0.000022/3 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489424609 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      9:127896763 (GRCh38)
                                      9:130659042 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:127896762:C:G,NC_000009.12:127896762:C:T
                                      Gene:
                                      ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489379404 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:127897734 (GRCh38)
                                        9:130660013 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:127897733:T:C
                                        Gene:
                                        ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_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.

                                        rs1489143924 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:127904277 (GRCh38)
                                          9:130666556 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:127904276:T:C
                                          Gene:
                                          ST6GALNAC6 (Varview), ST6GALNAC4-ST6GALNAC6-AK1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000026/7 (TOPMED)
                                          HGVS:

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