U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 3752

1.

rs1491577132 has merged into rs1252634774 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
    Chromosome:
    6:32151961 (GRCh38)
    6:32119738 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000006.12:32151951:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
    Gene:
    PPT2 (Varview), PRRT1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGGG=0./0 (ALFA)
    HGVS:
    NC_000006.12:g.32151961_32151963del, NC_000006.12:g.32151962_32151963del, NC_000006.12:g.32151963del, NC_000006.12:g.32151963dup, NC_000006.12:g.32151962_32151963dup, NC_000006.12:g.32151961_32151963dup, NC_000006.12:g.32151960_32151963dup, NC_000006.12:g.32151963_32151964insGGGGGGGGGGGGGGGGGGGG, NC_000006.11:g.32119738_32119740del, NC_000006.11:g.32119739_32119740del, NC_000006.11:g.32119740del, NC_000006.11:g.32119740dup, NC_000006.11:g.32119739_32119740dup, NC_000006.11:g.32119738_32119740dup, NC_000006.11:g.32119737_32119740dup, NC_000006.11:g.32119740_32119741insGGGGGGGGGGGGGGGGGGGG, NG_042283.1:g.3510_3512del, NG_042283.1:g.3511_3512del, NG_042283.1:g.3512del, NG_042283.1:g.3512dup, NG_042283.1:g.3511_3512dup, NG_042283.1:g.3510_3512dup, NG_042283.1:g.3509_3512dup, NG_042283.1:g.3512_3513insGGGGGGGGGGGGGGGGGGGG, NT_167249.2:g.3468165_3468167del, NT_167249.2:g.3468166_3468167del, NT_167249.2:g.3468167del, NT_167249.2:g.3468167dup, NT_167249.2:g.3468166_3468167dup, NT_167249.2:g.3468165_3468167dup, NT_167249.2:g.3468164_3468167dup, NT_167249.2:g.3468167_3468168insGGGGGGGGGGGGGGGGGGGG, NT_167249.1:g.3467463_3467465del, NT_167249.1:g.3467464_3467465del, NT_167249.1:g.3467465del, NT_167249.1:g.3467465dup, NT_167249.1:g.3467464_3467465dup, NT_167249.1:g.3467463_3467465dup, NT_167249.1:g.3467462_3467465dup, NT_167249.1:g.3467465_3467466insGGGGGGGGGGGGGGGGGGGG, NT_167247.2:g.3493976_3493978del, NT_167247.2:g.3493977_3493978del, NT_167247.2:g.3493978del, NT_167247.2:g.3493978dup, NT_167247.2:g.3493977_3493978dup, NT_167247.2:g.3493976_3493978dup, NT_167247.2:g.3493975_3493978dup, NT_167247.2:g.3493978_3493979insGGGGGGGGGGGGGGGGGGGG, NT_167247.1:g.3499561_3499563del, NT_167247.1:g.3499562_3499563del, NT_167247.1:g.3499563del, NT_167247.1:g.3499563dup, NT_167247.1:g.3499562_3499563dup, NT_167247.1:g.3499561_3499563dup, NT_167247.1:g.3499560_3499563dup, NT_167247.1:g.3499563_3499564insGGGGGGGGGGGGGGGGGGGG, NT_167244.2:g.3484560_3484562del, NT_167244.2:g.3484561_3484562del, NT_167244.2:g.3484562del, NT_167244.2:g.3484562dup, NT_167244.2:g.3484561_3484562dup, NT_167244.2:g.3484560_3484562dup, NT_167244.2:g.3484559_3484562dup, NT_167244.2:g.3484562_3484563insGGGGGGGGGGGGGGGGGGGG, NT_167244.1:g.3434476_3434478del, NT_167244.1:g.3434477_3434478del, NT_167244.1:g.3434478del, NT_167244.1:g.3434478dup, NT_167244.1:g.3434477_3434478dup, NT_167244.1:g.3434476_3434478dup, NT_167244.1:g.3434475_3434478dup, NT_167244.1:g.3434478_3434479insGGGGGGGGGGGGGGGGGGGG, NT_167248.2:g.3375157_3375158dup, NT_167248.2:g.3375158del, NT_167248.2:g.3375158dup, NT_167248.2:g.3375156_3375158dup, NT_167248.2:g.3375155_3375158dup, NT_167248.2:g.3375154_3375158dup, NT_167248.2:g.3375153_3375158dup, NT_167248.2:g.3375158_3375159insGGGGGGGGGGGGGGGGGGGGGG, NT_167246.2:g.3456962_3456964del, NT_167246.2:g.3456963_3456964del, NT_167246.2:g.3456964del, NT_167246.2:g.3456964dup, NT_167246.2:g.3456963_3456964dup, NT_167246.2:g.3456962_3456964dup, NT_167246.2:g.3456961_3456964dup, NT_167246.2:g.3456964_3456965insGGGGGGGGGGGGGGGGGGGG, NT_167246.1:g.3462582_3462584del, NT_167246.1:g.3462583_3462584del, NT_167246.1:g.3462584del, NT_167246.1:g.3462584dup, NT_167246.1:g.3462583_3462584dup, NT_167246.1:g.3462582_3462584dup, NT_167246.1:g.3462581_3462584dup, NT_167246.1:g.3462584_3462585insGGGGGGGGGGGGGGGGGGGG, NT_167245.2:g.3393326_3393328del, NT_167245.2:g.3393327_3393328del, NT_167245.2:g.3393328del, NT_167245.2:g.3393328dup, NT_167245.2:g.3393327_3393328dup, NT_167245.2:g.3393326_3393328dup, NT_167245.2:g.3393325_3393328dup, NT_167245.2:g.3393328_3393329insGGGGGGGGGGGGGGGGGGGG, NT_167245.1:g.3398911_3398913del, NT_167245.1:g.3398912_3398913del, NT_167245.1:g.3398913del, NT_167245.1:g.3398913dup, NT_167245.1:g.3398912_3398913dup, NT_167245.1:g.3398911_3398913dup, NT_167245.1:g.3398910_3398913dup, NT_167245.1:g.3398913_3398914insGGGGGGGGGGGGGGGGGGGG, NT_167248.1:g.3380753_3380754dup, NT_167248.1:g.3380754del, NT_167248.1:g.3380754dup, NT_167248.1:g.3380752_3380754dup, NT_167248.1:g.3380751_3380754dup, NT_167248.1:g.3380750_3380754dup, NT_167248.1:g.3380749_3380754dup, NT_167248.1:g.3380754_3380755insGGGGGGGGGGGGGGGGGGGGGG

    2.

    rs1491521095 has merged into rs28359849 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
      Chromosome:
      6:32155601 (GRCh38)
      6:32123378 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:32155584:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
      Gene:
      PPT2 (Varview), LOC100507547 (Varview), PPT2-EGFL8 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
      TG=0.2273/843 (TWINSUK)
      TG=0.2286/881 (ALSPAC)
      HGVS:
      NC_000006.12:g.32155585TG[8], NC_000006.12:g.32155585TG[9], NC_000006.12:g.32155585TG[10], NC_000006.12:g.32155585TG[11], NC_000006.12:g.32155585TG[12], NC_000006.12:g.32155585TG[13], NC_000006.12:g.32155585TG[14], NC_000006.12:g.32155585TG[15], NC_000006.12:g.32155585TG[16], NC_000006.12:g.32155585TG[18], NC_000006.12:g.32155585TG[19], NC_000006.12:g.32155585TG[20], NC_000006.12:g.32155585TG[21], NC_000006.12:g.32155585TG[22], NC_000006.12:g.32155585TG[23], NC_000006.12:g.32155585TG[24], NC_000006.12:g.32155585TG[25], NC_000006.12:g.32155585TG[26], NC_000006.11:g.32123362TG[8], NC_000006.11:g.32123362TG[9], NC_000006.11:g.32123362TG[10], NC_000006.11:g.32123362TG[11], NC_000006.11:g.32123362TG[12], NC_000006.11:g.32123362TG[13], NC_000006.11:g.32123362TG[14], NC_000006.11:g.32123362TG[15], NC_000006.11:g.32123362TG[16], NC_000006.11:g.32123362TG[18], NC_000006.11:g.32123362TG[19], NC_000006.11:g.32123362TG[20], NC_000006.11:g.32123362TG[21], NC_000006.11:g.32123362TG[22], NC_000006.11:g.32123362TG[23], NC_000006.11:g.32123362TG[24], NC_000006.11:g.32123362TG[25], NC_000006.11:g.32123362TG[26], NG_042283.1:g.7134TG[8], NG_042283.1:g.7134TG[9], NG_042283.1:g.7134TG[10], NG_042283.1:g.7134TG[11], NG_042283.1:g.7134TG[12], NG_042283.1:g.7134TG[13], NG_042283.1:g.7134TG[14], NG_042283.1:g.7134TG[15], NG_042283.1:g.7134TG[16], NG_042283.1:g.7134TG[18], NG_042283.1:g.7134TG[19], NG_042283.1:g.7134TG[20], NG_042283.1:g.7134TG[21], NG_042283.1:g.7134TG[22], NG_042283.1:g.7134TG[23], NG_042283.1:g.7134TG[24], NG_042283.1:g.7134TG[25], NG_042283.1:g.7134TG[26], NT_113891.3:g.3593924TG[10], NT_113891.3:g.3593924TG[11], NT_113891.3:g.3593924TG[12], NT_113891.3:g.3593924TG[13], NT_113891.3:g.3593924TG[14], NT_113891.3:g.3593924TG[15], NT_113891.3:g.3593924TG[16], NT_113891.3:g.3593924TG[17], NT_113891.3:g.3593924TG[18], NT_113891.3:g.3593924TG[20], NT_113891.3:g.3593924TG[21], NT_113891.3:g.3593924TG[22], NT_113891.3:g.3593924TG[23], NT_113891.3:g.3593924TG[24], NT_113891.3:g.3593924TG[25], NT_113891.3:g.3593924TG[26], NT_113891.3:g.3593924TG[27], NT_113891.3:g.3593924TG[28], NT_113891.2:g.3594030TG[10], NT_113891.2:g.3594030TG[11], NT_113891.2:g.3594030TG[12], NT_113891.2:g.3594030TG[13], NT_113891.2:g.3594030TG[14], NT_113891.2:g.3594030TG[15], NT_113891.2:g.3594030TG[16], NT_113891.2:g.3594030TG[17], NT_113891.2:g.3594030TG[18], NT_113891.2:g.3594030TG[20], NT_113891.2:g.3594030TG[21], NT_113891.2:g.3594030TG[22], NT_113891.2:g.3594030TG[23], NT_113891.2:g.3594030TG[24], NT_113891.2:g.3594030TG[25], NT_113891.2:g.3594030TG[26], NT_113891.2:g.3594030TG[27], NT_113891.2:g.3594030TG[28], NT_167249.2:g.3471789TG[8], NT_167249.2:g.3471789TG[9], NT_167249.2:g.3471789TG[10], NT_167249.2:g.3471789TG[11], NT_167249.2:g.3471789TG[12], NT_167249.2:g.3471789TG[13], NT_167249.2:g.3471789TG[14], NT_167249.2:g.3471789TG[15], NT_167249.2:g.3471789TG[16], NT_167249.2:g.3471789TG[18], NT_167249.2:g.3471789TG[19], NT_167249.2:g.3471789TG[20], NT_167249.2:g.3471789TG[21], NT_167249.2:g.3471789TG[22], NT_167249.2:g.3471789TG[23], NT_167249.2:g.3471789TG[24], NT_167249.2:g.3471789TG[25], NT_167249.2:g.3471789TG[26], NT_167249.1:g.3471087TG[8], NT_167249.1:g.3471087TG[9], NT_167249.1:g.3471087TG[10], NT_167249.1:g.3471087TG[11], NT_167249.1:g.3471087TG[12], NT_167249.1:g.3471087TG[13], NT_167249.1:g.3471087TG[14], NT_167249.1:g.3471087TG[15], NT_167249.1:g.3471087TG[16], NT_167249.1:g.3471087TG[18], NT_167249.1:g.3471087TG[19], NT_167249.1:g.3471087TG[20], NT_167249.1:g.3471087TG[21], NT_167249.1:g.3471087TG[22], NT_167249.1:g.3471087TG[23], NT_167249.1:g.3471087TG[24], NT_167249.1:g.3471087TG[25], NT_167249.1:g.3471087TG[26], NT_167247.2:g.3497600TG[10], NT_167247.2:g.3497600TG[11], NT_167247.2:g.3497600TG[12], NT_167247.2:g.3497600TG[13], NT_167247.2:g.3497600TG[14], NT_167247.2:g.3497600TG[15], NT_167247.2:g.3497600TG[16], NT_167247.2:g.3497600TG[17], NT_167247.2:g.3497600TG[18], NT_167247.2:g.3497600TG[20], NT_167247.2:g.3497600TG[21], NT_167247.2:g.3497600TG[22], NT_167247.2:g.3497600TG[23], NT_167247.2:g.3497600TG[24], NT_167247.2:g.3497600TG[25], NT_167247.2:g.3497600TG[26], NT_167247.2:g.3497600TG[27], NT_167247.2:g.3497600TG[28], NT_167247.1:g.3503185TG[10], NT_167247.1:g.3503185TG[11], NT_167247.1:g.3503185TG[12], NT_167247.1:g.3503185TG[13], NT_167247.1:g.3503185TG[14], NT_167247.1:g.3503185TG[15], NT_167247.1:g.3503185TG[16], NT_167247.1:g.3503185TG[17], NT_167247.1:g.3503185TG[18], NT_167247.1:g.3503185TG[20], NT_167247.1:g.3503185TG[21], NT_167247.1:g.3503185TG[22], NT_167247.1:g.3503185TG[23], NT_167247.1:g.3503185TG[24], NT_167247.1:g.3503185TG[25], NT_167247.1:g.3503185TG[26], NT_167247.1:g.3503185TG[27], NT_167247.1:g.3503185TG[28], NT_167244.2:g.3488184TG[8], NT_167244.2:g.3488184TG[9], NT_167244.2:g.3488184TG[10], NT_167244.2:g.3488184TG[11], NT_167244.2:g.3488184TG[12], NT_167244.2:g.3488184TG[13], NT_167244.2:g.3488184TG[14], NT_167244.2:g.3488184TG[15], NT_167244.2:g.3488184TG[16], NT_167244.2:g.3488184TG[18], NT_167244.2:g.3488184TG[19], NT_167244.2:g.3488184TG[20], NT_167244.2:g.3488184TG[21], NT_167244.2:g.3488184TG[22], NT_167244.2:g.3488184TG[23], NT_167244.2:g.3488184TG[24], NT_167244.2:g.3488184TG[25], NT_167244.2:g.3488184TG[26], NT_167244.1:g.3438100TG[8], NT_167244.1:g.3438100TG[9], NT_167244.1:g.3438100TG[10], NT_167244.1:g.3438100TG[11], NT_167244.1:g.3438100TG[12], NT_167244.1:g.3438100TG[13], NT_167244.1:g.3438100TG[14], NT_167244.1:g.3438100TG[15], NT_167244.1:g.3438100TG[16], NT_167244.1:g.3438100TG[18], NT_167244.1:g.3438100TG[19], NT_167244.1:g.3438100TG[20], NT_167244.1:g.3438100TG[21], NT_167244.1:g.3438100TG[22], NT_167244.1:g.3438100TG[23], NT_167244.1:g.3438100TG[24], NT_167244.1:g.3438100TG[25], NT_167244.1:g.3438100TG[26], NT_167248.2:g.3378779TG[9], NT_167248.2:g.3378779TG[10], NT_167248.2:g.3378779TG[11], NT_167248.2:g.3378779TG[12], NT_167248.2:g.3378779TG[13], NT_167248.2:g.3378779TG[14], NT_167248.2:g.3378779TG[15], NT_167248.2:g.3378779TG[16], NT_167248.2:g.3378779TG[17], NT_167248.2:g.3378779TG[19], NT_167248.2:g.3378779TG[20], NT_167248.2:g.3378779TG[21], NT_167248.2:g.3378779TG[22], NT_167248.2:g.3378779TG[23], NT_167248.2:g.3378779TG[24], NT_167248.2:g.3378779TG[25], NT_167248.2:g.3378779TG[26], NT_167248.2:g.3378779TG[27], NT_167248.1:g.3384375TG[9], NT_167248.1:g.3384375TG[10], NT_167248.1:g.3384375TG[11], NT_167248.1:g.3384375TG[12], NT_167248.1:g.3384375TG[13], NT_167248.1:g.3384375TG[14], NT_167248.1:g.3384375TG[15], NT_167248.1:g.3384375TG[16], NT_167248.1:g.3384375TG[17], NT_167248.1:g.3384375TG[19], NT_167248.1:g.3384375TG[20], NT_167248.1:g.3384375TG[21], NT_167248.1:g.3384375TG[22], NT_167248.1:g.3384375TG[23], NT_167248.1:g.3384375TG[24], NT_167248.1:g.3384375TG[25], NT_167248.1:g.3384375TG[26], NT_167248.1:g.3384375TG[27], NT_167246.2:g.3460586TG[17], NT_167246.2:g.3460586TG[9], NT_167246.2:g.3460586TG[10], NT_167246.2:g.3460586TG[11], NT_167246.2:g.3460586TG[12], NT_167246.2:g.3460586TG[13], NT_167246.2:g.3460586TG[14], NT_167246.2:g.3460586TG[15], NT_167246.2:g.3460586TG[16], NT_167246.2:g.3460586TG[18], NT_167246.2:g.3460586TG[19], NT_167246.2:g.3460586TG[20], NT_167246.2:g.3460586TG[21], NT_167246.2:g.3460586TG[22], NT_167246.2:g.3460586TG[23], NT_167246.2:g.3460586TG[24], NT_167246.2:g.3460586TG[25], NT_167246.2:g.3460586TG[26], NT_167245.2:g.3396950TG[13], NT_167245.2:g.3396950TG[14], NT_167245.2:g.3396950TG[15], NT_167245.2:g.3396950TG[16], NT_167245.2:g.3396950TG[17], NT_167245.2:g.3396950TG[18], NT_167245.2:g.3396950TG[19], NT_167245.2:g.3396950TG[20], NT_167245.2:g.3396950TG[21], NT_167245.2:g.3396950TG[23], NT_167245.2:g.3396950TG[24], NT_167245.2:g.3396950TG[25], NT_167245.2:g.3396950TG[26], NT_167245.2:g.3396950TG[27], NT_167245.2:g.3396950TG[28], NT_167245.2:g.3396950TG[29], NT_167245.2:g.3396950TG[30], NT_167245.2:g.3396950TG[31], NT_167245.1:g.3402535TG[13], NT_167245.1:g.3402535TG[14], NT_167245.1:g.3402535TG[15], NT_167245.1:g.3402535TG[16], NT_167245.1:g.3402535TG[17], NT_167245.1:g.3402535TG[18], NT_167245.1:g.3402535TG[19], NT_167245.1:g.3402535TG[20], NT_167245.1:g.3402535TG[21], NT_167245.1:g.3402535TG[23], NT_167245.1:g.3402535TG[24], NT_167245.1:g.3402535TG[25], NT_167245.1:g.3402535TG[26], NT_167245.1:g.3402535TG[27], NT_167245.1:g.3402535TG[28], NT_167245.1:g.3402535TG[29], NT_167245.1:g.3402535TG[30], NT_167245.1:g.3402535TG[31], NT_167246.1:g.3466206TG[17], NT_167246.1:g.3466206TG[9], NT_167246.1:g.3466206TG[10], NT_167246.1:g.3466206TG[11], NT_167246.1:g.3466206TG[12], NT_167246.1:g.3466206TG[13], NT_167246.1:g.3466206TG[14], NT_167246.1:g.3466206TG[15], NT_167246.1:g.3466206TG[16], NT_167246.1:g.3466206TG[18], NT_167246.1:g.3466206TG[19], NT_167246.1:g.3466206TG[20], NT_167246.1:g.3466206TG[21], NT_167246.1:g.3466206TG[22], NT_167246.1:g.3466206TG[23], NT_167246.1:g.3466206TG[24], NT_167246.1:g.3466206TG[25], NT_167246.1:g.3466206TG[26]

      3.

      rs1491171932 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        6:32161590 (GRCh38)
        6:32129367 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32161587:CTCT:CT
        Gene:
        PPT2 (Varview), PPT2-EGFL8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CTCT=0./0 (ALFA)
        -=0.000008/1 (GnomAD)
        HGVS:

        4.

        rs1491045337 has merged into rs9281659 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT,TTTT [Show Flanks]
          Chromosome:
          6:32152913 (GRCh38)
          6:32120690 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32152899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:32152899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:32152899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:32152899:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
          Gene:
          PPT2 (Varview), PRRT1 (Varview), LOC100507547 (Varview), PPT2-EGFL8 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTTT=0.0001/1 (ALFA)
          T=0.1745/104 (NorthernSweden)
          T=0.22544/1129 (1000Genomes)
          T=0.45/18 (GENOME_DK)
          HGVS:
          NC_000006.12:g.32152913_32152914del, NC_000006.12:g.32152914del, NC_000006.12:g.32152914dup, NC_000006.12:g.32152913_32152914dup, NC_000006.11:g.32120690_32120691del, NC_000006.11:g.32120691del, NC_000006.11:g.32120691dup, NC_000006.11:g.32120690_32120691dup, NG_042283.1:g.4462_4463del, NG_042283.1:g.4463del, NG_042283.1:g.4463dup, NG_042283.1:g.4462_4463dup, NT_113891.3:g.3591252_3591253del, NT_113891.3:g.3591253del, NT_113891.3:g.3591253dup, NT_113891.3:g.3591252_3591253dup, NT_113891.2:g.3591358_3591359del, NT_113891.2:g.3591359del, NT_113891.2:g.3591359dup, NT_113891.2:g.3591358_3591359dup, NT_167249.2:g.3469117_3469118del, NT_167249.2:g.3469118del, NT_167249.2:g.3469118dup, NT_167249.2:g.3469117_3469118dup, NT_167249.1:g.3468415_3468416del, NT_167249.1:g.3468416del, NT_167249.1:g.3468416dup, NT_167249.1:g.3468415_3468416dup, NT_167247.2:g.3494928_3494929del, NT_167247.2:g.3494929del, NT_167247.2:g.3494929dup, NT_167247.2:g.3494928_3494929dup, NT_167247.1:g.3500513_3500514del, NT_167247.1:g.3500514del, NT_167247.1:g.3500514dup, NT_167247.1:g.3500513_3500514dup, NT_167244.2:g.3485512_3485513del, NT_167244.2:g.3485513del, NT_167244.2:g.3485513dup, NT_167244.2:g.3485512_3485513dup, NT_167244.1:g.3435428_3435429del, NT_167244.1:g.3435429del, NT_167244.1:g.3435429dup, NT_167244.1:g.3435428_3435429dup, NT_167248.2:g.3376108dup, NT_167248.2:g.3376108del, NT_167248.2:g.3376107_3376108dup, NT_167248.2:g.3376106_3376108dup, NT_167246.2:g.3457914_3457915del, NT_167246.2:g.3457915del, NT_167246.2:g.3457915dup, NT_167246.2:g.3457914_3457915dup, NT_167246.1:g.3463534_3463535del, NT_167246.1:g.3463535del, NT_167246.1:g.3463535dup, NT_167246.1:g.3463534_3463535dup, NT_167245.2:g.3394278_3394279del, NT_167245.2:g.3394279del, NT_167245.2:g.3394279dup, NT_167245.2:g.3394278_3394279dup, NT_167245.1:g.3399863_3399864del, NT_167245.1:g.3399864del, NT_167245.1:g.3399864dup, NT_167245.1:g.3399863_3399864dup, NR_037169.1:n.1027_1028del, NR_037169.1:n.1028del, NR_037169.1:n.1028dup, NR_037169.1:n.1027_1028dup, NR_037171.1:n.500_501del, NR_037171.1:n.501del, NR_037171.1:n.501dup, NR_037171.1:n.500_501dup, NR_037172.1:n.449_450del, NR_037172.1:n.450del, NR_037172.1:n.450dup, NR_037172.1:n.449_450dup, NR_037170.1:n.958_959del, NR_037170.1:n.959del, NR_037170.1:n.959dup, NR_037170.1:n.958_959dup, NT_167248.1:g.3381704dup, NT_167248.1:g.3381704del, NT_167248.1:g.3381703_3381704dup, NT_167248.1:g.3381702_3381704dup

          5.

          rs1490950003 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            6:32148894 (GRCh38)
            6:32116671 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32148893:C:A
            Gene:
            PRRT1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1490707797 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              6:32155019 (GRCh38)
              6:32122796 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32155018:C:A,NC_000006.12:32155018:C:G
              Gene:
              PPT2 (Varview), PRRT1 (Varview), LOC100507547 (Varview), PPT2-EGFL8 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000006.12:g.32155019C>A, NC_000006.12:g.32155019C>G, NC_000006.11:g.32122796C>A, NC_000006.11:g.32122796C>G, NG_042283.1:g.6568C>A, NG_042283.1:g.6568C>G, NT_113891.3:g.3593358C>A, NT_113891.3:g.3593358C>G, NT_113891.2:g.3593464C>A, NT_113891.2:g.3593464C>G, NT_167249.2:g.3471223C>A, NT_167249.2:g.3471223C>G, NT_167249.1:g.3470521C>A, NT_167249.1:g.3470521C>G, NT_167247.2:g.3497034C>A, NT_167247.2:g.3497034C>G, NT_167247.1:g.3502619C>A, NT_167247.1:g.3502619C>G, NT_167244.2:g.3487618C>A, NT_167244.2:g.3487618C>G, NT_167244.1:g.3437534C>A, NT_167244.1:g.3437534C>G, NT_167248.2:g.3378213C>A, NT_167248.2:g.3378213C>G, NT_167248.1:g.3383809C>A, NT_167248.1:g.3383809C>G, NT_167246.2:g.3460020C>A, NT_167246.2:g.3460020C>G, NT_167246.1:g.3465640C>A, NT_167246.1:g.3465640C>G, NT_167245.2:g.3396384C>A, NT_167245.2:g.3396384C>G, NT_167245.1:g.3401969C>A, NT_167245.1:g.3401969C>G

              7.

              rs1490600412 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                6:32159650 (GRCh38)
                6:32127427 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32159649:A:C
                Gene:
                PPT2 (Varview), PPT2-EGFL8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1490579677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:32158727 (GRCh38)
                  6:32126504 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32158726:C:T
                  Gene:
                  PPT2 (Varview), PPT2-EGFL8 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  T=0.000156/1 (1000Genomes)
                  HGVS:

                  9.

                  rs1490367993 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:32150162 (GRCh38)
                    6:32117939 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32150161:T:C
                    Gene:
                    PRRT1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490250986 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:32157387 (GRCh38)
                      6:32125164 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32157386:A:G
                      Gene:
                      PPT2 (Varview), PPT2-EGFL8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490047282 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        6:32165589 (GRCh38)
                        6:32133366 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:32165588:C:A
                        Gene:
                        EGFL8 (Varview), PPT2-EGFL8 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1489878082 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          6:32149669 (GRCh38)
                          6:32117446 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:32149668:C:G,NC_000006.12:32149668:C:T
                          Gene:
                          PRRT1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          G=0.00078/13 (TOMMO)
                          HGVS:
                          NC_000006.12:g.32149669C>G, NC_000006.12:g.32149669C>T, NC_000006.11:g.32117446C>G, NC_000006.11:g.32117446C>T, NG_042283.1:g.1218C>G, NG_042283.1:g.1218C>T, NT_113891.3:g.3588006C>G, NT_113891.3:g.3588006C>T, NT_113891.2:g.3588112C>G, NT_113891.2:g.3588112C>T, NT_167249.2:g.3465873C>G, NT_167249.2:g.3465873C>T, NT_167249.1:g.3465171C>G, NT_167249.1:g.3465171C>T, NT_167247.2:g.3491684C>G, NT_167247.2:g.3491684C>T, NT_167247.1:g.3497269C>G, NT_167247.1:g.3497269C>T, NT_167244.2:g.3482267C>G, NT_167244.2:g.3482267C>T, NT_167244.1:g.3432183C>G, NT_167244.1:g.3432183C>T, NT_167248.2:g.3372866C>G, NT_167248.2:g.3372866C>T, NT_167248.1:g.3378462C>G, NT_167248.1:g.3378462C>T, NT_167246.2:g.3454670C>G, NT_167246.2:g.3454670C>T, NT_167246.1:g.3460290C>G, NT_167246.1:g.3460290C>T, NT_167245.2:g.3391032C>G, NT_167245.2:g.3391032C>T, NT_167245.1:g.3396617C>G, NT_167245.1:g.3396617C>T, NM_030651.4:c.612G>C, NM_030651.4:c.612G>A, NM_030651.3:c.612G>C, NM_030651.3:c.612G>A, NM_001363780.2:c.369G>C, NM_001363780.2:c.369G>A, NM_001363780.1:c.369G>C, NM_001363780.1:c.369G>A

                          13.

                          rs1489318407 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:32165325 (GRCh38)
                            6:32133102 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:32165324:G:A
                            Gene:
                            EGFL8 (Varview), PPT2-EGFL8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1488604392 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TTTTTTGC [Show Flanks]
                              Chromosome:
                              6:32148674 (GRCh38)
                              6:32116452 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:32148674::TTTTTTGC
                              Gene:
                              PRRT1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              TTTTTTGC=0.00002/2 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.32148674_32148675insTTTTTTGC, NC_000006.11:g.32116451_32116452insTTTTTTGC, NG_042283.1:g.223_224insTTTTTTGC, NT_113891.3:g.3587011_3587012insTTTTTTGC, NT_113891.2:g.3587117_3587118insTTTTTTGC, NT_167249.2:g.3464878_3464879insTTTTTTGC, NT_167249.1:g.3464176_3464177insTTTTTTGC, NT_167247.2:g.3490689_3490690insTTTTTTGC, NT_167247.1:g.3496274_3496275insTTTTTTGC, NT_167244.2:g.3481272_3481273insTTTTTTGC, NT_167244.1:g.3431188_3431189insTTTTTTGC, NT_167248.2:g.3371871_3371872insTTTTTTGC, NT_167248.1:g.3377467_3377468insTTTTTTGC, NT_167246.2:g.3453675_3453676insTTTTTTGC, NT_167246.1:g.3459295_3459296insTTTTTTGC, NT_167245.2:g.3390037_3390038insTTTTTTGC, NT_167245.1:g.3395622_3395623insTTTTTTGC, NM_030651.4:c.*547_*548insGCAAAAAA, NM_030651.3:c.*547_*548insGCAAAAAA, NM_001363780.2:c.*547_*548insGCAAAAAA, NM_001363780.1:c.*547_*548insGCAAAAAA

                              15.

                              rs1488427974 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AGAA [Show Flanks]
                                Chromosome:
                                6:32156883 (GRCh38)
                                6:32124661 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:32156883:AGAA:AGAAAGAA
                                Gene:
                                PPT2 (Varview), PPT2-EGFL8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                AGAAAGAA=0./0 (ALFA)
                                AGAA=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1488274335 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  6:32163484 (GRCh38)
                                  6:32131261 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:32163483:G:A,NC_000006.12:32163483:G:T
                                  Gene:
                                  PPT2 (Varview), EGFL8 (Varview), PPT2-EGFL8 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000006.12:g.32163484G>A, NC_000006.12:g.32163484G>T, NC_000006.11:g.32131261G>A, NC_000006.11:g.32131261G>T, NG_042283.1:g.15033G>A, NG_042283.1:g.15033G>T, NM_005155.7:c.*534G>A, NM_005155.7:c.*534G>T, NM_005155.6:c.*534G>A, NM_005155.6:c.*534G>T, NM_138717.3:c.*534G>A, NM_138717.3:c.*534G>T, NM_138717.2:c.*534G>A, NM_138717.2:c.*534G>T, NM_001204103.2:c.*534G>A, NM_001204103.2:c.*534G>T, NM_001204103.1:c.*534G>A, NM_001204103.1:c.*534G>T, NT_113891.3:g.3601836G>A, NT_113891.3:g.3601836G>T, NT_113891.2:g.3601942G>A, NT_113891.2:g.3601942G>T, NT_167249.2:g.3479690G>A, NT_167249.2:g.3479690G>T, NT_167249.1:g.3478988G>A, NT_167249.1:g.3478988G>T, NT_167247.2:g.3505505G>A, NT_167247.2:g.3505505G>T, NT_167247.1:g.3511090G>A, NT_167247.1:g.3511090G>T, NT_167244.2:g.3496085G>A, NT_167244.2:g.3496085G>T, NT_167244.1:g.3446001G>A, NT_167244.1:g.3446001G>T, NT_167248.2:g.3386685G>A, NT_167248.2:g.3386685G>T, NT_167248.1:g.3392281G>A, NT_167248.1:g.3392281G>T, NT_167246.2:g.3468468G>A, NT_167246.2:g.3468468G>T, NT_167246.1:g.3474088G>A, NT_167246.1:g.3474088G>T

                                  17.

                                  rs1488209137 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:32148782 (GRCh38)
                                    6:32116559 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:32148781:G:A
                                    Gene:
                                    PRRT1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    HGVS:

                                    18.

                                    rs1488133010 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      6:32154880 (GRCh38)
                                      6:32122657 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:32154879:C:A,NC_000006.12:32154879:C:G
                                      Gene:
                                      PPT2 (Varview), PRRT1 (Varview), LOC100507547 (Varview), PPT2-EGFL8 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000006.12:g.32154880C>A, NC_000006.12:g.32154880C>G, NC_000006.11:g.32122657C>A, NC_000006.11:g.32122657C>G, NG_042283.1:g.6429C>A, NG_042283.1:g.6429C>G, NT_113891.3:g.3593219C>A, NT_113891.3:g.3593219C>G, NT_113891.2:g.3593325C>A, NT_113891.2:g.3593325C>G, NT_167249.2:g.3471084C>A, NT_167249.2:g.3471084C>G, NT_167249.1:g.3470382C>A, NT_167249.1:g.3470382C>G, NT_167247.2:g.3496895C>A, NT_167247.2:g.3496895C>G, NT_167247.1:g.3502480C>A, NT_167247.1:g.3502480C>G, NT_167244.2:g.3487479C>A, NT_167244.2:g.3487479C>G, NT_167244.1:g.3437395C>A, NT_167244.1:g.3437395C>G, NT_167248.2:g.3378074C>A, NT_167248.2:g.3378074C>G, NT_167248.1:g.3383670C>A, NT_167248.1:g.3383670C>G, NT_167246.2:g.3459881C>A, NT_167246.2:g.3459881C>G, NT_167246.1:g.3465501C>A, NT_167246.1:g.3465501C>G, NT_167245.2:g.3396245C>A, NT_167245.2:g.3396245C>G, NT_167245.1:g.3401830C>A, NT_167245.1:g.3401830C>G

                                      19.

                                      rs1487933508 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:32151496 (GRCh38)
                                        6:32119273 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:32151495:G:A
                                        Gene:
                                        PRRT1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1487473445 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          6:32159720 (GRCh38)
                                          6:32127497 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:32159719:C:
                                          Gene:
                                          PPT2 (Varview), PPT2-EGFL8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000029/4 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity