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Items: 1 to 20 of 16805

1.

rs1491585533 has merged into rs10565853 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A,AA,AAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
    Chromosome:
    6:127495210 (GRCh38)
    6:127816355 (GRCh37)
    Canonical SPDI:
    NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127495196:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0.0002/1 (ALFA)
    -=0.1064/410 (ALSPAC)
    HGVS:

    2.

    rs1491579713 has merged into rs5879851 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTT>-,T,TT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:127440333 (GRCh38)
      6:127761478 (GRCh37)
      Canonical SPDI:
      NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:127440324:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      KIAA0408 (Varview), SOGA3-KIAA0408 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.128438/495 (ALSPAC)
      -=0.137271/509 (TWINSUK)
      HGVS:
      NC_000006.12:g.127440333_127440342del, NC_000006.12:g.127440334_127440342del, NC_000006.12:g.127440335_127440342del, NC_000006.12:g.127440340_127440342del, NC_000006.12:g.127440341_127440342del, NC_000006.12:g.127440342del, NC_000006.12:g.127440342dup, NC_000006.12:g.127440341_127440342dup, NC_000006.12:g.127440340_127440342dup, NC_000006.12:g.127440339_127440342dup, NC_000006.12:g.127440338_127440342dup, NC_000006.12:g.127440336_127440342dup, NC_000006.12:g.127440333_127440342dup, NC_000006.11:g.127761478_127761487del, NC_000006.11:g.127761479_127761487del, NC_000006.11:g.127761480_127761487del, NC_000006.11:g.127761485_127761487del, NC_000006.11:g.127761486_127761487del, NC_000006.11:g.127761487del, NC_000006.11:g.127761487dup, NC_000006.11:g.127761486_127761487dup, NC_000006.11:g.127761485_127761487dup, NC_000006.11:g.127761484_127761487dup, NC_000006.11:g.127761483_127761487dup, NC_000006.11:g.127761481_127761487dup, NC_000006.11:g.127761478_127761487dup, NM_014702.5:c.*3775_*3784del, NM_014702.5:c.*3776_*3784del, NM_014702.5:c.*3777_*3784del, NM_014702.5:c.*3782_*3784del, NM_014702.5:c.*3783_*3784del, NM_014702.5:c.*3784del, NM_014702.5:c.*3784dup, NM_014702.5:c.*3783_*3784dup, NM_014702.5:c.*3782_*3784dup, NM_014702.5:c.*3781_*3784dup, NM_014702.5:c.*3780_*3784dup, NM_014702.5:c.*3778_*3784dup, NM_014702.5:c.*3775_*3784dup, NM_014702.4:c.*3775_*3784del, NM_014702.4:c.*3776_*3784del, NM_014702.4:c.*3777_*3784del, NM_014702.4:c.*3782_*3784del, NM_014702.4:c.*3783_*3784del, NM_014702.4:c.*3784del, NM_014702.4:c.*3784dup, NM_014702.4:c.*3783_*3784dup, NM_014702.4:c.*3782_*3784dup, NM_014702.4:c.*3781_*3784dup, NM_014702.4:c.*3780_*3784dup, NM_014702.4:c.*3778_*3784dup, NM_014702.4:c.*3775_*3784dup, NM_001012279.3:c.*6181_*6190del, NM_001012279.3:c.*6182_*6190del, NM_001012279.3:c.*6183_*6190del, NM_001012279.3:c.*6188_*6190del, NM_001012279.3:c.*6189_*6190del, NM_001012279.3:c.*6190del, NM_001012279.3:c.*6190dup, NM_001012279.3:c.*6189_*6190dup, NM_001012279.3:c.*6188_*6190dup, NM_001012279.3:c.*6187_*6190dup, NM_001012279.3:c.*6186_*6190dup, NM_001012279.3:c.*6184_*6190dup, NM_001012279.3:c.*6181_*6190dup, NM_001012279.2:c.*6181_*6190del, NM_001012279.2:c.*6182_*6190del, NM_001012279.2:c.*6183_*6190del, NM_001012279.2:c.*6188_*6190del, NM_001012279.2:c.*6189_*6190del, NM_001012279.2:c.*6190del, NM_001012279.2:c.*6190dup, NM_001012279.2:c.*6189_*6190dup, NM_001012279.2:c.*6188_*6190dup, NM_001012279.2:c.*6187_*6190dup, NM_001012279.2:c.*6186_*6190dup, NM_001012279.2:c.*6184_*6190dup, NM_001012279.2:c.*6181_*6190dup, NR_174482.1:n.9906_9915del, NR_174482.1:n.9907_9915del, NR_174482.1:n.9908_9915del, NR_174482.1:n.9913_9915del, NR_174482.1:n.9914_9915del, NR_174482.1:n.9915del, NR_174482.1:n.9915dup, NR_174482.1:n.9914_9915dup, NR_174482.1:n.9913_9915dup, NR_174482.1:n.9912_9915dup, NR_174482.1:n.9911_9915dup, NR_174482.1:n.9909_9915dup, NR_174482.1:n.9906_9915dup, NM_001395923.1:c.*6217_*6226del, NM_001395923.1:c.*6218_*6226del, NM_001395923.1:c.*6219_*6226del, NM_001395923.1:c.*6224_*6226del, NM_001395923.1:c.*6225_*6226del, NM_001395923.1:c.*6226del, NM_001395923.1:c.*6226dup, NM_001395923.1:c.*6225_*6226dup, NM_001395923.1:c.*6224_*6226dup, NM_001395923.1:c.*6223_*6226dup, NM_001395923.1:c.*6222_*6226dup, NM_001395923.1:c.*6220_*6226dup, NM_001395923.1:c.*6217_*6226dup, NM_001395928.1:c.*6217_*6226del, NM_001395928.1:c.*6218_*6226del, NM_001395928.1:c.*6219_*6226del, NM_001395928.1:c.*6224_*6226del, NM_001395928.1:c.*6225_*6226del, NM_001395928.1:c.*6226del, NM_001395928.1:c.*6226dup, NM_001395928.1:c.*6225_*6226dup, NM_001395928.1:c.*6224_*6226dup, NM_001395928.1:c.*6223_*6226dup, NM_001395928.1:c.*6222_*6226dup, NM_001395928.1:c.*6220_*6226dup, NM_001395928.1:c.*6217_*6226dup, NM_001395929.1:c.*6181_*6190del, NM_001395929.1:c.*6182_*6190del, NM_001395929.1:c.*6183_*6190del, NM_001395929.1:c.*6188_*6190del, NM_001395929.1:c.*6189_*6190del, NM_001395929.1:c.*6190del, NM_001395929.1:c.*6190dup, NM_001395929.1:c.*6189_*6190dup, NM_001395929.1:c.*6188_*6190dup, NM_001395929.1:c.*6187_*6190dup, NM_001395929.1:c.*6186_*6190dup, NM_001395929.1:c.*6184_*6190dup, NM_001395929.1:c.*6181_*6190dup, NM_001395926.1:c.*5968_*5977del, NM_001395926.1:c.*5969_*5977del, NM_001395926.1:c.*5970_*5977del, NM_001395926.1:c.*5975_*5977del, NM_001395926.1:c.*5976_*5977del, NM_001395926.1:c.*5977del, NM_001395926.1:c.*5977dup, NM_001395926.1:c.*5976_*5977dup, NM_001395926.1:c.*5975_*5977dup, NM_001395926.1:c.*5974_*5977dup, NM_001395926.1:c.*5973_*5977dup, NM_001395926.1:c.*5971_*5977dup, NM_001395926.1:c.*5968_*5977dup, NM_001395924.1:c.*5753_*5762del, NM_001395924.1:c.*5754_*5762del, NM_001395924.1:c.*5755_*5762del, NM_001395924.1:c.*5760_*5762del, NM_001395924.1:c.*5761_*5762del, NM_001395924.1:c.*5762del, NM_001395924.1:c.*5762dup, NM_001395924.1:c.*5761_*5762dup, NM_001395924.1:c.*5760_*5762dup, NM_001395924.1:c.*5759_*5762dup, NM_001395924.1:c.*5758_*5762dup, NM_001395924.1:c.*5756_*5762dup, NM_001395924.1:c.*5753_*5762dup, NM_001395925.1:c.*5717_*5726del, NM_001395925.1:c.*5718_*5726del, NM_001395925.1:c.*5719_*5726del, NM_001395925.1:c.*5724_*5726del, NM_001395925.1:c.*5725_*5726del, NM_001395925.1:c.*5726del, NM_001395925.1:c.*5726dup, NM_001395925.1:c.*5725_*5726dup, NM_001395925.1:c.*5724_*5726dup, NM_001395925.1:c.*5723_*5726dup, NM_001395925.1:c.*5722_*5726dup, NM_001395925.1:c.*5720_*5726dup, NM_001395925.1:c.*5717_*5726dup

      3.

      rs1491567672 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TC [Show Flanks]
        Chromosome:
        6:127474301 (GRCh38)
        6:127795447 (GRCh37)
        Canonical SPDI:
        NC_000006.12:127474301::TC
        Gene:
        SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TC=0./0 (ALFA)
        TC=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491431813 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          6:127495196 (GRCh38)
          6:127816341 (GRCh37)
          Canonical SPDI:
          NC_000006.12:127495195:CA:
          Gene:
          SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:

          5.

          rs1491413806 has merged into rs1162981954 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAA>-,A,AAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            6:127491889 (GRCh38)
            6:127813034 (GRCh37)
            Canonical SPDI:
            NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:127491878:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000006.12:g.127491889_127491902del, NC_000006.12:g.127491890_127491902del, NC_000006.12:g.127491892_127491902del, NC_000006.12:g.127491895_127491902del, NC_000006.12:g.127491898_127491902del, NC_000006.12:g.127491899_127491902del, NC_000006.12:g.127491900_127491902del, NC_000006.12:g.127491901_127491902del, NC_000006.12:g.127491902del, NC_000006.12:g.127491902dup, NC_000006.12:g.127491901_127491902dup, NC_000006.12:g.127491900_127491902dup, NC_000006.12:g.127491899_127491902dup, NC_000006.12:g.127491897_127491902dup, NC_000006.12:g.127491896_127491902dup, NC_000006.12:g.127491895_127491902dup, NC_000006.12:g.127491887_127491902dup, NC_000006.12:g.127491902_127491903insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.127491902_127491903insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.127813034_127813047del, NC_000006.11:g.127813035_127813047del, NC_000006.11:g.127813037_127813047del, NC_000006.11:g.127813040_127813047del, NC_000006.11:g.127813043_127813047del, NC_000006.11:g.127813044_127813047del, NC_000006.11:g.127813045_127813047del, NC_000006.11:g.127813046_127813047del, NC_000006.11:g.127813047del, NC_000006.11:g.127813047dup, NC_000006.11:g.127813046_127813047dup, NC_000006.11:g.127813045_127813047dup, NC_000006.11:g.127813044_127813047dup, NC_000006.11:g.127813042_127813047dup, NC_000006.11:g.127813041_127813047dup, NC_000006.11:g.127813040_127813047dup, NC_000006.11:g.127813032_127813047dup, NC_000006.11:g.127813047_127813048insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.127813047_127813048insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1491317437 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              6:127491878 (GRCh38)
              6:127813023 (GRCh37)
              Canonical SPDI:
              NC_000006.12:127491877:CA:
              Gene:
              SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00025/3 (ALFA)
              HGVS:

              7.

              rs1491273098 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                6:127507842 (GRCh38)
                6:127828987 (GRCh37)
                Canonical SPDI:
                NC_000006.12:127507841:CA:
                Gene:
                SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:

                8.

                rs1491196649 [Homo sapiens]
                  Variant type:
                  SNV:
                  Alleles:
                  ->C
                  Chromosome:
                  no mapping
                  Canonical SPDI:

                  9.

                  rs1491151196 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AG>- [Show Flanks]
                    Chromosome:
                    6:127474303 (GRCh38)
                    6:127795448 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:127474300:AGAG:AG
                    Gene:
                    SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGAG=0.000071/1 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000011/3 (TOPMED)
                    HGVS:

                    10.

                    rs1490988800 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      6:127488305 (GRCh38)
                      6:127809450 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:127488304:G:T
                      Gene:
                      SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490987098 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:127459837 (GRCh38)
                        6:127780982 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:127459836:T:C
                        Gene:
                        KIAA0408 (Varview), SOGA3-KIAA0408 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.0002/1 (ALFA)
                        C=0.0002/1 (Estonian)
                        C=0.0017/1 (NorthernSweden)
                        HGVS:

                        12.

                        rs1490955368 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:127504445 (GRCh38)
                          6:127825590 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:127504444:A:G
                          Gene:
                          SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490912298 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            6:127475931 (GRCh38)
                            6:127797076 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:127475930:C:G
                            Gene:
                            SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000028/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:

                            14.

                            rs1490909682 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:127505542 (GRCh38)
                              6:127826687 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:127505541:A:G
                              Gene:
                              SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000023/6 (TOPMED)
                              G=0.000035/1 (TOMMO)
                              HGVS:

                              15.

                              rs1490908174 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:127441527 (GRCh38)
                                6:127762672 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:127441526:G:A
                                Gene:
                                KIAA0408 (Varview), SOGA3-KIAA0408 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490901347 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:127521114 (GRCh38)
                                  6:127842259 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:127521113:G:A
                                  Gene:
                                  SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490897354 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TT>- [Show Flanks]
                                    Chromosome:
                                    6:127502818 (GRCh38)
                                    6:127823963 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:127502815:TTTT:TT
                                    Gene:
                                    SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTTT=0.0002/1 (ALFA)
                                    -=0.0002/1 (Estonian)
                                    HGVS:

                                    18.

                                    rs1490879609 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      6:127459377 (GRCh38)
                                      6:127780522 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:127459376:A:C
                                      Gene:
                                      KIAA0408 (Varview), SOGA3-KIAA0408 (Varview)
                                      Functional Consequence:
                                      intron_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000038/10 (TOPMED)
                                      C=0.000071/1 (TOMMO)
                                      C=0.001027/3 (KOREAN)
                                      HGVS:

                                      19.

                                      rs1490812769 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:127460579 (GRCh38)
                                        6:127781724 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:127460578:A:G
                                        Gene:
                                        KIAA0408 (Varview), SOGA3-KIAA0408 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000021/3 (GnomAD)
                                        G=0.00006/16 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490805397 has merged into rs201854755 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          A>-,AA,AAA [Show Flanks]
                                          Chromosome:
                                          6:127477960 (GRCh38)
                                          6:127799105 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:127477959:AAAAAAAAA:AAAAAAAA,NC_000006.12:127477959:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:127477959:AAAAAAAAA:AAAAAAAAAAA
                                          Gene:
                                          SOGA3 (Varview), SOGA3-KIAA0408 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          -=0.00203/13 (1000Genomes)
                                          A=0.0031/52 (TOMMO)
                                          -=0.00819/15 (Korea1K)
                                          HGVS:

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