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 Gene

Items: 1 to 20 of 9233

1.

rs1491583694 has merged into rs958209460 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    19:10837512 (GRCh38)
    19:10948188 (GRCh37)
    Canonical SPDI:
    NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10837503:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    TMED1 (Varview), C19orf38 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000019.10:g.10837512_10837524del, NC_000019.10:g.10837513_10837524del, NC_000019.10:g.10837515_10837524del, NC_000019.10:g.10837517_10837524del, NC_000019.10:g.10837518_10837524del, NC_000019.10:g.10837519_10837524del, NC_000019.10:g.10837520_10837524del, NC_000019.10:g.10837521_10837524del, NC_000019.10:g.10837522_10837524del, NC_000019.10:g.10837523_10837524del, NC_000019.10:g.10837524del, NC_000019.10:g.10837524dup, NC_000019.10:g.10837523_10837524dup, NC_000019.10:g.10837504_10837524T[23]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837522_10837524dup, NC_000019.10:g.10837504_10837524T[24]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[24]CTTTTTTTTTTTT[2]T[10], NC_000019.10:g.10837521_10837524dup, NC_000019.10:g.10837504_10837524T[25]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[25]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[25]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837520_10837524dup, NC_000019.10:g.10837504_10837524T[26]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[26]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[26]ATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837519_10837524dup, NC_000019.10:g.10837504_10837524T[27]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837518_10837524dup, NC_000019.10:g.10837504_10837524T[28]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[28]CT[2]T[21], NC_000019.10:g.10837504_10837524T[28]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837517_10837524dup, NC_000019.10:g.10837504_10837524T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837516_10837524dup, NC_000019.10:g.10837514_10837524dup, NC_000019.10:g.10837504_10837524T[32]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[32]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837513_10837524dup, NC_000019.10:g.10837504_10837524T[33]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837512_10837524dup, NC_000019.10:g.10837504_10837524T[34]CCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[34]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837511_10837524dup, NC_000019.10:g.10837504_10837524T[35]CCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[35]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[35]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[36]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837504_10837524T[38]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10837524_10837525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948188_10948200del, NC_000019.9:g.10948189_10948200del, NC_000019.9:g.10948191_10948200del, NC_000019.9:g.10948193_10948200del, NC_000019.9:g.10948194_10948200del, NC_000019.9:g.10948195_10948200del, NC_000019.9:g.10948196_10948200del, NC_000019.9:g.10948197_10948200del, NC_000019.9:g.10948198_10948200del, NC_000019.9:g.10948199_10948200del, NC_000019.9:g.10948200del, NC_000019.9:g.10948200dup, NC_000019.9:g.10948199_10948200dup, NC_000019.9:g.10948180_10948200T[23]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948198_10948200dup, NC_000019.9:g.10948180_10948200T[24]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[24]CTTTTTTTTTTTT[2]T[10], NC_000019.9:g.10948197_10948200dup, NC_000019.9:g.10948180_10948200T[25]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[25]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[25]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[25]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948196_10948200dup, NC_000019.9:g.10948180_10948200T[26]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[26]AATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[26]ATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[26]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948195_10948200dup, NC_000019.9:g.10948180_10948200T[27]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948194_10948200dup, NC_000019.9:g.10948180_10948200T[28]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[28]CT[2]T[21], NC_000019.9:g.10948180_10948200T[28]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948193_10948200dup, NC_000019.9:g.10948180_10948200T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948192_10948200dup, NC_000019.9:g.10948190_10948200dup, NC_000019.9:g.10948180_10948200T[32]ATTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[32]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948189_10948200dup, NC_000019.9:g.10948180_10948200T[33]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948188_10948200dup, NC_000019.9:g.10948180_10948200T[34]CCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[34]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948187_10948200dup, NC_000019.9:g.10948180_10948200T[35]CCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[35]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[35]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[36]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948180_10948200T[38]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10948200_10948201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491341895 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATTA [Show Flanks]
      Chromosome:
      19:10857367 (GRCh38)
      19:10968044 (GRCh37)
      Canonical SPDI:
      NC_000019.10:10857367::A,NC_000019.10:10857367::ATA,NC_000019.10:10857367::ATATA,NC_000019.10:10857367::ATATATA,NC_000019.10:10857367::ATATATATA,NC_000019.10:10857367::ATATATATATA,NC_000019.10:10857367::ATATATATATATA,NC_000019.10:10857367::ATATATATATATATA,NC_000019.10:10857367::ATATATATATATATATA,NC_000019.10:10857367::ATATATATATATATATATA,NC_000019.10:10857367::ATATATATATATATATATATA,NC_000019.10:10857367::ATATATATATATATATATATATA,NC_000019.10:10857367::ATATATATATATATATATATATATA,NC_000019.10:10857367::ATATATATTA
      Gene:
      C19orf38 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATA=0./0 (ALFA)
      A=0.052/26 (NorthernSweden)
      HGVS:
      NC_000019.10:g.10857367_10857368insA, NC_000019.10:g.10857367_10857368insATA, NC_000019.10:g.10857367_10857368insATATA, NC_000019.10:g.10857367_10857368insATATATA, NC_000019.10:g.10857367_10857368insATATATATA, NC_000019.10:g.10857367_10857368insATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATATATATATATATATATA, NC_000019.10:g.10857367_10857368insATATATATTA, NC_000019.9:g.10968043_10968044insA, NC_000019.9:g.10968043_10968044insATA, NC_000019.9:g.10968043_10968044insATATA, NC_000019.9:g.10968043_10968044insATATATA, NC_000019.9:g.10968043_10968044insATATATATA, NC_000019.9:g.10968043_10968044insATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATATATATATATATATATA, NC_000019.9:g.10968043_10968044insATATATATTA

      3.

      rs1491335502 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->TCTTTTTTTTTTTTTTTTTTTT
        Chromosome:
        no mapping
        Canonical SPDI:

        4.

        rs1491306949 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          19:10857898 (GRCh38)
          19:10968574 (GRCh37)
          Canonical SPDI:
          NC_000019.10:10857896:AGA:A
          Gene:
          C19orf38 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:

          5.

          rs1491281669 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTT [Show Flanks]
            Chromosome:
            19:10853900 (GRCh38)
            19:10964577 (GRCh37)
            Canonical SPDI:
            NC_000019.10:10853900:TT:TTGTT
            Gene:
            C19orf38 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTGTT=0./0 (ALFA)
            TTG=0.000009/1 (GnomAD)
            HGVS:

            6.

            rs1491250900 has merged into rs1221027780 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
              Chromosome:
              19:10859394 (GRCh38)
              19:10970070 (GRCh37)
              Canonical SPDI:
              NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10859384:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
              Gene:
              C19orf38 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              HGVS:

              7.

              rs1491237512 has merged into rs773726753 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                19:10857379 (GRCh38)
                19:10968055 (GRCh37)
                Canonical SPDI:
                NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10857366:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                C19orf38 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                -=0.02057/498 (TOMMO)
                TTT=0.375/15 (GENOME_DK)
                HGVS:
                NC_000019.10:g.10857379_10857385del, NC_000019.10:g.10857380_10857385del, NC_000019.10:g.10857381_10857385del, NC_000019.10:g.10857382_10857385del, NC_000019.10:g.10857383_10857385del, NC_000019.10:g.10857384_10857385del, NC_000019.10:g.10857385del, NC_000019.10:g.10857385dup, NC_000019.10:g.10857384_10857385dup, NC_000019.10:g.10857383_10857385dup, NC_000019.10:g.10857382_10857385dup, NC_000019.10:g.10857381_10857385dup, NC_000019.10:g.10857380_10857385dup, NC_000019.10:g.10857379_10857385dup, NC_000019.10:g.10857378_10857385dup, NC_000019.10:g.10857377_10857385dup, NC_000019.10:g.10857376_10857385dup, NC_000019.10:g.10857375_10857385dup, NC_000019.10:g.10857374_10857385dup, NC_000019.10:g.10857373_10857385dup, NC_000019.9:g.10968055_10968061del, NC_000019.9:g.10968056_10968061del, NC_000019.9:g.10968057_10968061del, NC_000019.9:g.10968058_10968061del, NC_000019.9:g.10968059_10968061del, NC_000019.9:g.10968060_10968061del, NC_000019.9:g.10968061del, NC_000019.9:g.10968061dup, NC_000019.9:g.10968060_10968061dup, NC_000019.9:g.10968059_10968061dup, NC_000019.9:g.10968058_10968061dup, NC_000019.9:g.10968057_10968061dup, NC_000019.9:g.10968056_10968061dup, NC_000019.9:g.10968055_10968061dup, NC_000019.9:g.10968054_10968061dup, NC_000019.9:g.10968053_10968061dup, NC_000019.9:g.10968052_10968061dup, NC_000019.9:g.10968051_10968061dup, NC_000019.9:g.10968050_10968061dup, NC_000019.9:g.10968049_10968061dup

                8.

                rs1491185351 has merged into rs545079431 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  19:10853910 (GRCh38)
                  19:10964586 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10853899:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  C19orf38 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.070687/354 (1000Genomes)
                  -=0.2/8 (GENOME_DK)
                  HGVS:

                  9.

                  rs1491175157 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A,ATA,ATATA,ATATATA,ATATATATA [Show Flanks]
                    Chromosome:
                    19:10859385 (GRCh38)
                    19:10970062 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:10859385::A,NC_000019.10:10859385::ATA,NC_000019.10:10859385::ATATA,NC_000019.10:10859385::ATATATA,NC_000019.10:10859385::ATATATATA
                    Gene:
                    C19orf38 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATA=0./0 (ALFA)
                    A=0.00182/25 (TOMMO)
                    A=0.01483/7 (NorthernSweden)
                    HGVS:

                    10.

                    rs1491062280 has merged into rs200149496 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                      Chromosome:
                      19:10845172 (GRCh38)
                      19:10955848 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:10845160:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:10845160:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:10845160:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:10845160:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:10845160:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
                      Gene:
                      C19orf38 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAA=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491011042 has merged into rs71164128 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        19:10866370 (GRCh38)
                        19:10977046 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10866357:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        C19orf38 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTT=0./0 (ALFA)
                        -=0.19089/956 (1000Genomes)
                        -=0.475/19 (GENOME_DK)
                        HGVS:
                        NC_000019.10:g.10866370_10866377del, NC_000019.10:g.10866371_10866377del, NC_000019.10:g.10866372_10866377del, NC_000019.10:g.10866373_10866377del, NC_000019.10:g.10866374_10866377del, NC_000019.10:g.10866375_10866377del, NC_000019.10:g.10866376_10866377del, NC_000019.10:g.10866377del, NC_000019.10:g.10866377dup, NC_000019.10:g.10866376_10866377dup, NC_000019.10:g.10866375_10866377dup, NC_000019.10:g.10866372_10866377dup, NC_000019.10:g.10866371_10866377dup, NC_000019.10:g.10866370_10866377dup, NC_000019.10:g.10866369_10866377dup, NC_000019.10:g.10866368_10866377dup, NC_000019.10:g.10866367_10866377dup, NC_000019.10:g.10866366_10866377dup, NC_000019.10:g.10866359_10866377dup, NC_000019.9:g.10977046_10977053del, NC_000019.9:g.10977047_10977053del, NC_000019.9:g.10977048_10977053del, NC_000019.9:g.10977049_10977053del, NC_000019.9:g.10977050_10977053del, NC_000019.9:g.10977051_10977053del, NC_000019.9:g.10977052_10977053del, NC_000019.9:g.10977053del, NC_000019.9:g.10977053dup, NC_000019.9:g.10977052_10977053dup, NC_000019.9:g.10977051_10977053dup, NC_000019.9:g.10977048_10977053dup, NC_000019.9:g.10977047_10977053dup, NC_000019.9:g.10977046_10977053dup, NC_000019.9:g.10977045_10977053dup, NC_000019.9:g.10977044_10977053dup, NC_000019.9:g.10977043_10977053dup, NC_000019.9:g.10977042_10977053dup, NC_000019.9:g.10977035_10977053dup

                        12.

                        rs1490972904 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          19:10865137 (GRCh38)
                          19:10975813 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:10865136:G:C
                          Gene:
                          C19orf38 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490942964 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            19:10864146 (GRCh38)
                            19:10974822 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:10864145:G:A,NC_000019.10:10864145:G:T
                            Gene:
                            C19orf38 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490939987 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              19:10839507 (GRCh38)
                              19:10950183 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:10839506:C:G,NC_000019.10:10839506:C:T
                              Gene:
                              C19orf38 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490908874 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:10853346 (GRCh38)
                                19:10964022 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:10853345:A:G
                                Gene:
                                C19orf38 (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:

                                16.

                                rs1490872666 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:10852393 (GRCh38)
                                  19:10963069 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:10852392:C:T
                                  Gene:
                                  C19orf38 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000312/2 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1490860342 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:10838921 (GRCh38)
                                    19:10949597 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:10838920:T:C
                                    Gene:
                                    C19orf38 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000008/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490522187 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:10859282 (GRCh38)
                                      19:10969958 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:10859281:G:A
                                      Gene:
                                      C19orf38 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.00008/1 (ALFA)
                                      HGVS:

                                      19.

                                      rs1490488847 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:10846392 (GRCh38)
                                        19:10957068 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:10846391:A:G
                                        Gene:
                                        C19orf38 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490437981 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:10845676 (GRCh38)
                                          19:10956352 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:10845675:G:A
                                          Gene:
                                          C19orf38 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000022/3 (GnomAD)
                                          A=0.000071/2 (TOMMO)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...