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Items: 1 to 20 of 4012

1.

rs1491564856 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    6:32405808 (GRCh38)
    6:32373586 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32405808::G
    Gene:
    BTNL2 (Varview), TSBP1-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1491544807 has merged into rs67509572 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,AAAA [Show Flanks]
      Chromosome:
      6:32394470 (GRCh38)
      6:32362247 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32394468:AAA:A,NC_000006.12:32394468:AAA:AAAAA
      Gene:
      BTNL2 (Varview), TSBP1-AS1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.141318/2308 (ALFA)
      -=0.075472/16 (Vietnamese)
      -=0.1/4 (GENOME_DK)
      -=0.121359/450 (TWINSUK)
      -=0.129259/129 (GoNL)
      -=0.131033/505 (ALSPAC)
      -=0.145/87 (NorthernSweden)
      -=0.14993/20971 (GnomAD)
      -=0.160837/805 (1000Genomes)
      -=0.16808/753 (Estonian)
      -=0.284875/4775 (TOMMO)
      HGVS:
      NC_000006.12:g.32394470_32394471del, NC_000006.12:g.32394470_32394471dup, NC_000006.11:g.32362247_32362248del, NC_000006.11:g.32362247_32362248dup, NG_054759.1:g.19410_19411del, NG_054759.1:g.19410_19411dup, NT_113891.3:g.3832562_3832563del, NT_113891.3:g.3832562_3832563dup, NT_113891.2:g.3832668_3832669del, NT_113891.2:g.3832668_3832669dup, NT_167244.2:g.3726701_3726702del, NT_167244.2:g.3726701_3726702dup, NT_167244.1:g.3676617_3676618del, NT_167244.1:g.3676617_3676618dup, NT_167248.2:g.3617509_3617510del, NT_167248.2:g.3617509_3617510dup, NT_167248.1:g.3623105_3623106del, NT_167248.1:g.3623105_3623106dup, NT_167246.2:g.3699463_3699464del, NT_167246.2:g.3699463_3699464dup, NT_167246.1:g.3705083_3705084del, NT_167246.1:g.3705083_3705084dup, NT_167249.2:g.3710392_3710393del, NT_167249.2:g.3710392_3710393dup, NT_167249.1:g.3709690_3709691del, NT_167249.1:g.3709690_3709691dup, NT_167247.2:g.3736220_3736221del, NT_167247.2:g.3736220_3736221dup, NT_167247.1:g.3741805_3741806del, NT_167247.1:g.3741805_3741806dup, NT_167245.2:g.3635561_3635562del, NT_167245.2:g.3635561_3635562dup, NT_167245.1:g.3641146_3641147del, NT_167245.1:g.3641146_3641147dup, NT_187692.1:g.59513_59514insTT, NT_187692.1:g.59513_59514insTTTT

      3.

      rs1491458453 has merged into rs55703731 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        6:32400759 (GRCh38)
        6:32368536 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        BTNL2 (Varview), TSBP1-AS1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAAA=0./0 (ALFA)
        -=0.00174/45 (TOMMO)
        HGVS:
        NC_000006.12:g.32400759_32400763del, NC_000006.12:g.32400760_32400763del, NC_000006.12:g.32400762_32400763del, NC_000006.12:g.32400763del, NC_000006.12:g.32400763dup, NC_000006.12:g.32400762_32400763dup, NC_000006.12:g.32400761_32400763dup, NC_000006.12:g.32400756_32400763dup, NC_000006.12:g.32400754_32400763dup, NC_000006.12:g.32400753_32400763dup, NC_000006.12:g.32400752_32400763dup, NC_000006.12:g.32400751_32400763dup, NC_000006.11:g.32368536_32368540del, NC_000006.11:g.32368537_32368540del, NC_000006.11:g.32368539_32368540del, NC_000006.11:g.32368540del, NC_000006.11:g.32368540dup, NC_000006.11:g.32368539_32368540dup, NC_000006.11:g.32368538_32368540dup, NC_000006.11:g.32368533_32368540dup, NC_000006.11:g.32368531_32368540dup, NC_000006.11:g.32368530_32368540dup, NC_000006.11:g.32368529_32368540dup, NC_000006.11:g.32368528_32368540dup, NG_054759.1:g.13130_13134del, NG_054759.1:g.13131_13134del, NG_054759.1:g.13133_13134del, NG_054759.1:g.13134del, NG_054759.1:g.13134dup, NG_054759.1:g.13133_13134dup, NG_054759.1:g.13132_13134dup, NG_054759.1:g.13127_13134dup, NG_054759.1:g.13125_13134dup, NG_054759.1:g.13124_13134dup, NG_054759.1:g.13123_13134dup, NG_054759.1:g.13122_13134dup, NT_113891.3:g.3838851_3838855del, NT_113891.3:g.3838852_3838855del, NT_113891.3:g.3838854_3838855del, NT_113891.3:g.3838855del, NT_113891.3:g.3838855dup, NT_113891.3:g.3838854_3838855dup, NT_113891.3:g.3838853_3838855dup, NT_113891.3:g.3838848_3838855dup, NT_113891.3:g.3838846_3838855dup, NT_113891.3:g.3838845_3838855dup, NT_113891.3:g.3838844_3838855dup, NT_113891.3:g.3838843_3838855dup, NT_113891.2:g.3838957_3838961del, NT_113891.2:g.3838958_3838961del, NT_113891.2:g.3838960_3838961del, NT_113891.2:g.3838961del, NT_113891.2:g.3838961dup, NT_113891.2:g.3838960_3838961dup, NT_113891.2:g.3838959_3838961dup, NT_113891.2:g.3838954_3838961dup, NT_113891.2:g.3838952_3838961dup, NT_113891.2:g.3838951_3838961dup, NT_113891.2:g.3838950_3838961dup, NT_113891.2:g.3838949_3838961dup, NT_167244.2:g.3732990_3732994del, NT_167244.2:g.3732991_3732994del, NT_167244.2:g.3732993_3732994del, NT_167244.2:g.3732994del, NT_167244.2:g.3732994dup, NT_167244.2:g.3732993_3732994dup, NT_167244.2:g.3732992_3732994dup, NT_167244.2:g.3732987_3732994dup, NT_167244.2:g.3732985_3732994dup, NT_167244.2:g.3732984_3732994dup, NT_167244.2:g.3732983_3732994dup, NT_167244.2:g.3732982_3732994dup, NT_167244.1:g.3682906_3682910del, NT_167244.1:g.3682907_3682910del, NT_167244.1:g.3682909_3682910del, NT_167244.1:g.3682910del, NT_167244.1:g.3682910dup, NT_167244.1:g.3682909_3682910dup, NT_167244.1:g.3682908_3682910dup, NT_167244.1:g.3682903_3682910dup, NT_167244.1:g.3682901_3682910dup, NT_167244.1:g.3682900_3682910dup, NT_167244.1:g.3682899_3682910dup, NT_167244.1:g.3682898_3682910dup, NT_167248.2:g.3623798_3623802del, NT_167248.2:g.3623799_3623802del, NT_167248.2:g.3623801_3623802del, NT_167248.2:g.3623802del, NT_167248.2:g.3623802dup, NT_167248.2:g.3623801_3623802dup, NT_167248.2:g.3623800_3623802dup, NT_167248.2:g.3623795_3623802dup, NT_167248.2:g.3623793_3623802dup, NT_167248.2:g.3623792_3623802dup, NT_167248.2:g.3623791_3623802dup, NT_167248.2:g.3623790_3623802dup, NT_167248.1:g.3629394_3629398del, NT_167248.1:g.3629395_3629398del, NT_167248.1:g.3629397_3629398del, NT_167248.1:g.3629398del, NT_167248.1:g.3629398dup, NT_167248.1:g.3629397_3629398dup, NT_167248.1:g.3629396_3629398dup, NT_167248.1:g.3629391_3629398dup, NT_167248.1:g.3629389_3629398dup, NT_167248.1:g.3629388_3629398dup, NT_167248.1:g.3629387_3629398dup, NT_167248.1:g.3629386_3629398dup, NT_167246.2:g.3705762_3705766del, NT_167246.2:g.3705763_3705766del, NT_167246.2:g.3705765_3705766del, NT_167246.2:g.3705766del, NT_167246.2:g.3705766dup, NT_167246.2:g.3705765_3705766dup, NT_167246.2:g.3705764_3705766dup, NT_167246.2:g.3705759_3705766dup, NT_167246.2:g.3705757_3705766dup, NT_167246.2:g.3705756_3705766dup, NT_167246.2:g.3705755_3705766dup, NT_167246.2:g.3705754_3705766dup, NT_167246.1:g.3711382_3711386del, NT_167246.1:g.3711383_3711386del, NT_167246.1:g.3711385_3711386del, NT_167246.1:g.3711386del, NT_167246.1:g.3711386dup, NT_167246.1:g.3711385_3711386dup, NT_167246.1:g.3711384_3711386dup, NT_167246.1:g.3711379_3711386dup, NT_167246.1:g.3711377_3711386dup, NT_167246.1:g.3711376_3711386dup, NT_167246.1:g.3711375_3711386dup, NT_167246.1:g.3711374_3711386dup, NT_167249.2:g.3716692_3716696del, NT_167249.2:g.3716693_3716696del, NT_167249.2:g.3716695_3716696del, NT_167249.2:g.3716696del, NT_167249.2:g.3716696dup, NT_167249.2:g.3716695_3716696dup, NT_167249.2:g.3716694_3716696dup, NT_167249.2:g.3716689_3716696dup, NT_167249.2:g.3716687_3716696dup, NT_167249.2:g.3716686_3716696dup, NT_167249.2:g.3716685_3716696dup, NT_167249.2:g.3716684_3716696dup, NT_167249.1:g.3715990_3715994del, NT_167249.1:g.3715991_3715994del, NT_167249.1:g.3715993_3715994del, NT_167249.1:g.3715994del, NT_167249.1:g.3715994dup, NT_167249.1:g.3715993_3715994dup, NT_167249.1:g.3715992_3715994dup, NT_167249.1:g.3715987_3715994dup, NT_167249.1:g.3715985_3715994dup, NT_167249.1:g.3715984_3715994dup, NT_167249.1:g.3715983_3715994dup, NT_167249.1:g.3715982_3715994dup, NT_167247.2:g.3742520_3742524del, NT_167247.2:g.3742521_3742524del, NT_167247.2:g.3742523_3742524del, NT_167247.2:g.3742524del, NT_167247.2:g.3742524dup, NT_167247.2:g.3742523_3742524dup, NT_167247.2:g.3742522_3742524dup, NT_167247.2:g.3742517_3742524dup, NT_167247.2:g.3742515_3742524dup, NT_167247.2:g.3742514_3742524dup, NT_167247.2:g.3742513_3742524dup, NT_167247.2:g.3742512_3742524dup, NT_167247.1:g.3748105_3748109del, NT_167247.1:g.3748106_3748109del, NT_167247.1:g.3748108_3748109del, NT_167247.1:g.3748109del, NT_167247.1:g.3748109dup, NT_167247.1:g.3748108_3748109dup, NT_167247.1:g.3748107_3748109dup, NT_167247.1:g.3748102_3748109dup, NT_167247.1:g.3748100_3748109dup, NT_167247.1:g.3748099_3748109dup, NT_167247.1:g.3748098_3748109dup, NT_167247.1:g.3748097_3748109dup, NT_167245.2:g.3641851_3641855del, NT_167245.2:g.3641852_3641855del, NT_167245.2:g.3641854_3641855del, NT_167245.2:g.3641855del, NT_167245.2:g.3641855dup, NT_167245.2:g.3641854_3641855dup, NT_167245.2:g.3641853_3641855dup, NT_167245.2:g.3641848_3641855dup, NT_167245.2:g.3641846_3641855dup, NT_167245.2:g.3641845_3641855dup, NT_167245.2:g.3641844_3641855dup, NT_167245.2:g.3641843_3641855dup, NT_167245.1:g.3647436_3647440del, NT_167245.1:g.3647437_3647440del, NT_167245.1:g.3647439_3647440del, NT_167245.1:g.3647440del, NT_167245.1:g.3647440dup, NT_167245.1:g.3647439_3647440dup, NT_167245.1:g.3647438_3647440dup, NT_167245.1:g.3647433_3647440dup, NT_167245.1:g.3647431_3647440dup, NT_167245.1:g.3647430_3647440dup, NT_167245.1:g.3647429_3647440dup, NT_167245.1:g.3647428_3647440dup

        4.

        rs1491381074 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TACAAAA,TACAAAAGAAAA [Show Flanks]
          Chromosome:
          6:32400746 (GRCh38)
          6:32368524 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32400746:AAAA:AAAATACAAAA,NC_000006.12:32400746:AAAA:AAAATACAAAAGAAAA
          Gene:
          BTNL2 (Varview), TSBP1-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAATACAAAA=0./0 (ALFA)
          AAAATAC=0.0002/3 (TOMMO)
          AAAATAC=0.00339/2 (NorthernSweden)
          HGVS:
          NC_000006.12:g.32400747_32400750A[4]TACAAAA[1], NC_000006.12:g.32400747_32400750A[4]TACAAAAGAAAA[1], NC_000006.11:g.32368524_32368527A[4]TACAAAA[1], NC_000006.11:g.32368524_32368527A[4]TACAAAAGAAAA[1], NG_054759.1:g.13130_13133T[4]GTATTTT[1], NG_054759.1:g.13130_13133T[4]CTTTTGTATTTT[1], NT_113891.3:g.3838839_3838842A[4]TACAAAA[1], NT_113891.3:g.3838839_3838842A[4]TACAAAAGAAAA[1], NT_113891.2:g.3838945_3838948A[4]TACAAAA[1], NT_113891.2:g.3838945_3838948A[4]TACAAAAGAAAA[1], NT_167244.2:g.3732978_3732981A[4]TACAAAA[1], NT_167244.2:g.3732978_3732981A[4]TACAAAAGAAAA[1], NT_167244.1:g.3682894_3682897A[4]TACAAAA[1], NT_167244.1:g.3682894_3682897A[4]TACAAAAGAAAA[1], NT_167248.2:g.3623786_3623789A[4]TACAAAA[1], NT_167248.2:g.3623786_3623789A[4]TACAAAAGAAAA[1], NT_167248.1:g.3629382_3629385A[4]TACAAAA[1], NT_167248.1:g.3629382_3629385A[4]TACAAAAGAAAA[1], NT_167246.2:g.3705750_3705753A[4]TACAAAA[1], NT_167246.2:g.3705750_3705753A[4]TACAAAAGAAAA[1], NT_167246.1:g.3711370_3711373A[4]TACAAAA[1], NT_167246.1:g.3711370_3711373A[4]TACAAAAGAAAA[1], NT_167249.2:g.3716680_3716683A[4]TACAAAA[1], NT_167249.2:g.3716680_3716683A[4]TACAAAAGAAAA[1], NT_167249.1:g.3715978_3715981A[4]TACAAAA[1], NT_167249.1:g.3715978_3715981A[4]TACAAAAGAAAA[1], NT_167247.2:g.3742508_3742511A[4]TACAAAA[1], NT_167247.2:g.3742508_3742511A[4]TACAAAAGAAAA[1], NT_167247.1:g.3748093_3748096A[4]TACAAAA[1], NT_167247.1:g.3748093_3748096A[4]TACAAAAGAAAA[1], NT_167245.2:g.3641839_3641842A[4]TACAAAA[1], NT_167245.2:g.3641839_3641842A[4]TACAAAAGAAAA[1], NT_167245.1:g.3647424_3647427A[4]TACAAAA[1], NT_167245.1:g.3647424_3647427A[4]TACAAAAGAAAA[1], NT_187692.1:g.53230_53236dup, NT_187692.1:g.53226_53236T[4]GTATTTTCTTTTGTATTTT[1]

          5.

          rs1491345209 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            6:32410869 (GRCh38)
            6:32378646 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32410868:TT:
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.00441/25 (TOMMO)
            HGVS:

            6.

            rs1491261161 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              6:32410868 (GRCh38)
              6:32378645 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32410867:AT:
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00008/1 (ALFA)
              HGVS:

              7.

              rs1491091442 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T,TT [Show Flanks]
                Chromosome:
                6:32410868 (GRCh38)
                6:32378646 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32410868:TT:TTT,NC_000006.12:32410868:TT:TTTT
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTT=0./0 (ALFA)
                HGVS:

                8.

                rs1491074481 has merged into rs71536130 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
                  Chromosome:
                  6:32406523 (GRCh38)
                  6:32374300 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:32406512:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
                  Gene:
                  BTNL2 (Varview), TSBP1-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.3128/1409 (1000Genomes)
                  -=0.3266/1211 (TWINSUK)
                  -=0.3383/1304 (ALSPAC)
                  HGVS:
                  NC_000006.12:g.32406523_32406524del, NC_000006.12:g.32406524del, NC_000006.12:g.32406524dup, NC_000006.12:g.32406523_32406524dup, NC_000006.12:g.32406522_32406524dup, NC_000006.12:g.32406521_32406524dup, NC_000006.11:g.32374300_32374301del, NC_000006.11:g.32374301del, NC_000006.11:g.32374301dup, NC_000006.11:g.32374300_32374301dup, NC_000006.11:g.32374299_32374301dup, NC_000006.11:g.32374298_32374301dup, NG_054759.1:g.7366_7367del, NG_054759.1:g.7367del, NG_054759.1:g.7367dup, NG_054759.1:g.7366_7367dup, NG_054759.1:g.7365_7367dup, NG_054759.1:g.7364_7367dup, NT_113891.3:g.3844601_3844602del, NT_113891.3:g.3844602del, NT_113891.3:g.3844602dup, NT_113891.3:g.3844601_3844602dup, NT_113891.3:g.3844600_3844602dup, NT_113891.3:g.3844599_3844602dup, NT_113891.2:g.3844707_3844708del, NT_113891.2:g.3844708del, NT_113891.2:g.3844708dup, NT_113891.2:g.3844707_3844708dup, NT_113891.2:g.3844706_3844708dup, NT_113891.2:g.3844705_3844708dup, NT_167244.2:g.3738752_3738753del, NT_167244.2:g.3738753del, NT_167244.2:g.3738753dup, NT_167244.2:g.3738752_3738753dup, NT_167244.2:g.3738751_3738753dup, NT_167244.2:g.3738750_3738753dup, NT_167244.1:g.3688668_3688669del, NT_167244.1:g.3688669del, NT_167244.1:g.3688669dup, NT_167244.1:g.3688668_3688669dup, NT_167244.1:g.3688667_3688669dup, NT_167244.1:g.3688666_3688669dup, NT_167248.2:g.3629569_3629570del, NT_167248.2:g.3629570del, NT_167248.2:g.3629570dup, NT_167248.2:g.3629569_3629570dup, NT_167248.2:g.3629568_3629570dup, NT_167248.2:g.3629567_3629570dup, NT_167248.1:g.3635165_3635166del, NT_167248.1:g.3635166del, NT_167248.1:g.3635166dup, NT_167248.1:g.3635165_3635166dup, NT_167248.1:g.3635164_3635166dup, NT_167248.1:g.3635163_3635166dup, NT_167246.2:g.3711541dup, NT_167246.2:g.3711541del, NT_167246.2:g.3711540_3711541dup, NT_167246.2:g.3711539_3711541dup, NT_167246.2:g.3711538_3711541dup, NT_167246.2:g.3711537_3711541dup, NT_167249.2:g.3722451dup, NT_167249.2:g.3722451del, NT_167249.2:g.3722450_3722451dup, NT_167249.2:g.3722449_3722451dup, NT_167249.2:g.3722448_3722451dup, NT_167249.2:g.3722447_3722451dup, NT_167247.2:g.3748279dup, NT_167247.2:g.3748279del, NT_167247.2:g.3748278_3748279dup, NT_167247.2:g.3748277_3748279dup, NT_167247.2:g.3748276_3748279dup, NT_167247.2:g.3748275_3748279dup, NT_167245.2:g.3647601_3647602del, NT_167245.2:g.3647602del, NT_167245.2:g.3647602dup, NT_167245.2:g.3647601_3647602dup, NT_167245.2:g.3647600_3647602dup, NT_167245.2:g.3647599_3647602dup, NT_167245.1:g.3653186_3653187del, NT_167245.1:g.3653187del, NT_167245.1:g.3653187dup, NT_167245.1:g.3653186_3653187dup, NT_167245.1:g.3653185_3653187dup, NT_167245.1:g.3653184_3653187dup, NT_187692.1:g.47442_47443del, NT_187692.1:g.47443del, NT_187692.1:g.47443dup, NT_187692.1:g.47442_47443dup, NT_187692.1:g.47441_47443dup, NT_187692.1:g.47440_47443dup, NR_136245.1:n.813_814del, NR_136245.1:n.814del, NR_136245.1:n.814dup, NR_136245.1:n.813_814dup, NR_136245.1:n.812_814dup, NR_136245.1:n.811_814dup, NT_167249.1:g.3721749dup, NT_167249.1:g.3721749del, NT_167249.1:g.3721748_3721749dup, NT_167249.1:g.3721747_3721749dup, NT_167249.1:g.3721746_3721749dup, NT_167249.1:g.3721745_3721749dup, NT_167246.1:g.3717161dup, NT_167246.1:g.3717161del, NT_167246.1:g.3717160_3717161dup, NT_167246.1:g.3717159_3717161dup, NT_167246.1:g.3717158_3717161dup, NT_167246.1:g.3717157_3717161dup, NT_167247.1:g.3753864dup, NT_167247.1:g.3753864del, NT_167247.1:g.3753863_3753864dup, NT_167247.1:g.3753862_3753864dup, NT_167247.1:g.3753861_3753864dup, NT_167247.1:g.3753860_3753864dup

                  9.

                  rs1490832198 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:32402421 (GRCh38)
                    6:32370198 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32402420:C:T
                    Gene:
                    BTNL2 (Varview), TSBP1-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000121/32 (TOPMED)
                    T=0.000164/23 (GnomAD)
                    HGVS:

                    10.

                    rs1490667397 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:32405876 (GRCh38)
                      6:32373653 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32405875:C:G
                      Gene:
                      BTNL2 (Varview), TSBP1-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490530103 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        6:32403742 (GRCh38)
                        6:32371519 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:32403741:A:C
                        Gene:
                        BTNL2 (Varview), TSBP1-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490230565 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C,G [Show Flanks]
                          Chromosome:
                          6:32400764 (GRCh38)
                          6:32368541 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:32400763:T:A,NC_000006.12:32400763:T:C,NC_000006.12:32400763:T:G
                          Gene:
                          BTNL2 (Varview), TSBP1-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.00046/7 (ALFA)
                          HGVS:
                          NC_000006.12:g.32400764T>A, NC_000006.12:g.32400764T>C, NC_000006.12:g.32400764T>G, NC_000006.11:g.32368541T>A, NC_000006.11:g.32368541T>C, NC_000006.11:g.32368541T>G, NG_054759.1:g.13116A>T, NG_054759.1:g.13116A>G, NG_054759.1:g.13116A>C, NT_113891.3:g.3838856T>A, NT_113891.3:g.3838856T>C, NT_113891.3:g.3838856T>G, NT_113891.2:g.3838962T>A, NT_113891.2:g.3838962T>C, NT_113891.2:g.3838962T>G, NT_167244.2:g.3732995T>A, NT_167244.2:g.3732995T>C, NT_167244.2:g.3732995T>G, NT_167244.1:g.3682911T>A, NT_167244.1:g.3682911T>C, NT_167244.1:g.3682911T>G, NT_167248.2:g.3623803T>A, NT_167248.2:g.3623803T>C, NT_167248.2:g.3623803T>G, NT_167248.1:g.3629399T>A, NT_167248.1:g.3629399T>C, NT_167248.1:g.3629399T>G, NT_167246.2:g.3705767T>A, NT_167246.2:g.3705767T>C, NT_167246.2:g.3705767T>G, NT_167246.1:g.3711387T>A, NT_167246.1:g.3711387T>C, NT_167246.1:g.3711387T>G, NT_167249.2:g.3716697T>A, NT_167249.2:g.3716697T>C, NT_167249.2:g.3716697T>G, NT_167249.1:g.3715995T>A, NT_167249.1:g.3715995T>C, NT_167249.1:g.3715995T>G, NT_167247.2:g.3742525T>A, NT_167247.2:g.3742525T>C, NT_167247.2:g.3742525T>G, NT_167247.1:g.3748110T>A, NT_167247.1:g.3748110T>C, NT_167247.1:g.3748110T>G, NT_167245.2:g.3641856T>A, NT_167245.2:g.3641856T>C, NT_167245.2:g.3641856T>G, NT_167245.1:g.3647441T>A, NT_167245.1:g.3647441T>C, NT_167245.1:g.3647441T>G, NT_187692.1:g.53203A>T, NT_187692.1:g.53203A>G, NT_187692.1:g.53203A>C

                          13.

                          rs1490059780 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:32410201 (GRCh38)
                            6:32377978 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:32410200:C:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1489851614 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              6:32404652 (GRCh38)
                              6:32372429 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:32404651:T:C,NC_000006.12:32404651:T:G
                              Gene:
                              BTNL2 (Varview), TSBP1-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.0002/1 (ALFA)
                              C=0.0002/1 (Estonian)
                              G=0.0003/1 (KOREAN)
                              HGVS:
                              NC_000006.12:g.32404652T>C, NC_000006.12:g.32404652T>G, NC_000006.11:g.32372429T>C, NC_000006.11:g.32372429T>G, NG_054759.1:g.9228A>G, NG_054759.1:g.9228A>C, NT_113891.3:g.3842729T>C, NT_113891.3:g.3842729T>G, NT_113891.2:g.3842835T>C, NT_113891.2:g.3842835T>G, NT_167244.2:g.3736881T>C, NT_167244.2:g.3736881T>G, NT_167244.1:g.3686797T>C, NT_167244.1:g.3686797T>G, NT_167248.2:g.3627687T>C, NT_167248.2:g.3627687T>G, NT_167248.1:g.3633283T>C, NT_167248.1:g.3633283T>G, NT_167246.2:g.3709668T>C, NT_167246.2:g.3709668T>G, NT_167246.1:g.3715288T>C, NT_167246.1:g.3715288T>G, NT_167249.2:g.3720578T>C, NT_167249.2:g.3720578T>G, NT_167249.1:g.3719876T>C, NT_167249.1:g.3719876T>G, NT_167247.2:g.3746406T>C, NT_167247.2:g.3746406T>G, NT_167247.1:g.3751991T>C, NT_167247.1:g.3751991T>G, NT_167245.2:g.3645729T>C, NT_167245.2:g.3645729T>G, NT_167245.1:g.3651314T>C, NT_167245.1:g.3651314T>G, NT_187692.1:g.49305A>G, NT_187692.1:g.49305A>C

                              15.

                              rs1489597455 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                6:32408071 (GRCh38)
                                6:32375848 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:32408070:A:T
                                Gene:
                                BTNL2 (Varview), TSBP1-AS1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                T=0.000035/1 (TOMMO)
                                HGVS:

                                16.

                                rs1489346931 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  6:32409647 (GRCh38)
                                  6:32377424 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:32409646:C:A
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489022627 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACATTCAGTGCTAGCGCTCA>- [Show Flanks]
                                    Chromosome:
                                    6:32408275 (GRCh38)
                                    6:32376052 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:32408272:CAACATTCAGTGCTAGCGCTCA:CA
                                    Gene:
                                    BTNL2 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CA=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488901095 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:32393068 (GRCh38)
                                      6:32360845 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:32393067:A:G
                                      Gene:
                                      BTNL2 (Varview), HCG23 (Varview), TSBP1-AS1 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1488897515 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        6:32402115 (GRCh38)
                                        6:32369892 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:32402114:A:T
                                        Gene:
                                        BTNL2 (Varview), TSBP1-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1488768378 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:32398153 (GRCh38)
                                          6:32365930 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:32398152:G:A
                                          Gene:
                                          BTNL2 (Varview), TSBP1-AS1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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