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Select item 14915780221.

rs1491578022 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:84166064 (GRCh38)
16:84199670 (GRCh37)
Canonical SPDI:: NC_000016.10:84166063:TA:
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.84166064_84166065del, NC_000016.9:g.84199670_84199671del, NG_021174.2:g.25758_25759del, NG_021174.1:g.25806_25807del

Select item 14914174552.

rs1491417455 has merged into rs765676142 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:84148605 (GRCh38)
16:84182210 (GRCh37)
Canonical SPDI:: NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84148596:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000016.10:g.84148605_84148614del, NC_000016.10:g.84148609_84148614del, NC_000016.10:g.84148610_84148614del, NC_000016.10:g.84148611_84148614del, NC_000016.10:g.84148612_84148614del, NC_000016.10:g.84148613_84148614del, NC_000016.10:g.84148614del, NC_000016.10:g.84148614dup, NC_000016.10:g.84148613_84148614dup, NC_000016.10:g.84148612_84148614dup, NC_000016.10:g.84148597_84148614T[21]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.84148611_84148614dup, NC_000016.10:g.84148597_84148614T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.84148610_84148614dup, NC_000016.10:g.84148597_84148614T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.84148597_84148614T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.84148609_84148614dup, NC_000016.10:g.84148608_84148614dup, NC_000016.10:g.84148597_84148614T[25]GTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.84148607_84148614dup, NC_000016.10:g.84148606_84148614dup, NC_000016.10:g.84148605_84148614dup, NC_000016.10:g.84148604_84148614dup, NC_000016.10:g.84148603_84148614dup, NC_000016.10:g.84148602_84148614dup, NC_000016.10:g.84148601_84148614dup, NC_000016.10:g.84148600_84148614dup, NC_000016.10:g.84148599_84148614dup, NC_000016.10:g.84148598_84148614dup, NC_000016.10:g.84148597_84148614dup, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.84148614_84148615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182210_84182219del, NC_000016.9:g.84182214_84182219del, NC_000016.9:g.84182215_84182219del, NC_000016.9:g.84182216_84182219del, NC_000016.9:g.84182217_84182219del, NC_000016.9:g.84182218_84182219del, NC_000016.9:g.84182219del, NC_000016.9:g.84182219dup, NC_000016.9:g.84182218_84182219dup, NC_000016.9:g.84182217_84182219dup, NC_000016.9:g.84182202_84182219T[21]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.84182216_84182219dup, NC_000016.9:g.84182202_84182219T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.84182215_84182219dup, NC_000016.9:g.84182202_84182219T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.84182202_84182219T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.84182214_84182219dup, NC_000016.9:g.84182213_84182219dup, NC_000016.9:g.84182202_84182219T[25]GTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.84182212_84182219dup, NC_000016.9:g.84182211_84182219dup, NC_000016.9:g.84182210_84182219dup, NC_000016.9:g.84182209_84182219dup, NC_000016.9:g.84182208_84182219dup, NC_000016.9:g.84182207_84182219dup, NC_000016.9:g.84182206_84182219dup, NC_000016.9:g.84182205_84182219dup, NC_000016.9:g.84182204_84182219dup, NC_000016.9:g.84182203_84182219dup, NC_000016.9:g.84182202_84182219dup, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84182219_84182220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8299_8308del, NG_021174.2:g.8303_8308del, NG_021174.2:g.8304_8308del, NG_021174.2:g.8305_8308del, NG_021174.2:g.8306_8308del, NG_021174.2:g.8307_8308del, NG_021174.2:g.8308del, NG_021174.2:g.8308dup, NG_021174.2:g.8307_8308dup, NG_021174.2:g.8306_8308dup, NG_021174.2:g.8291_8308T[21]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.2:g.8305_8308dup, NG_021174.2:g.8291_8308T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.2:g.8304_8308dup, NG_021174.2:g.8291_8308T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.2:g.8291_8308T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.2:g.8303_8308dup, NG_021174.2:g.8302_8308dup, NG_021174.2:g.8291_8308T[25]GTTTTTTTTTTTTTTTTTTT[1], NG_021174.2:g.8301_8308dup, NG_021174.2:g.8300_8308dup, NG_021174.2:g.8299_8308dup, NG_021174.2:g.8298_8308dup, NG_021174.2:g.8297_8308dup, NG_021174.2:g.8296_8308dup, NG_021174.2:g.8295_8308dup, NG_021174.2:g.8294_8308dup, NG_021174.2:g.8293_8308dup, NG_021174.2:g.8292_8308dup, NG_021174.2:g.8291_8308dup, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.2:g.8308_8309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8346_8355del, NG_021174.1:g.8350_8355del, NG_021174.1:g.8351_8355del, NG_021174.1:g.8352_8355del, NG_021174.1:g.8353_8355del, NG_021174.1:g.8354_8355del, NG_021174.1:g.8355del, NG_021174.1:g.8355dup, NG_021174.1:g.8354_8355dup, NG_021174.1:g.8353_8355dup, NG_021174.1:g.8338_8355T[21]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.1:g.8352_8355dup, NG_021174.1:g.8338_8355T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.1:g.8351_8355dup, NG_021174.1:g.8338_8355T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.1:g.8338_8355T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021174.1:g.8350_8355dup, NG_021174.1:g.8349_8355dup, NG_021174.1:g.8338_8355T[25]GTTTTTTTTTTTTTTTTTTT[1], NG_021174.1:g.8348_8355dup, NG_021174.1:g.8347_8355dup, NG_021174.1:g.8346_8355dup, NG_021174.1:g.8345_8355dup, NG_021174.1:g.8344_8355dup, NG_021174.1:g.8343_8355dup, NG_021174.1:g.8342_8355dup, NG_021174.1:g.8341_8355dup, NG_021174.1:g.8340_8355dup, NG_021174.1:g.8339_8355dup, NG_021174.1:g.8338_8355dup, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021174.1:g.8355_8356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913700903.

rs1491370090 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:84149710 (GRCh38)
16:84183315 (GRCh37)
Canonical SPDI:: NC_000016.10:84149708:ACA:A
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.000142/2 (TOMMO)
-=0.000281/39 (GnomAD)
HGVS:: NC_000016.10:g.84149710_84149711del, NC_000016.9:g.84183315_84183316del, NG_021174.2:g.9404_9405del, NG_021174.1:g.9451_9452del

Select item 14913103484.

rs1491310348 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,G [Show Flanks]
Chromosome:: 16:84149709 (GRCh38)
16:84183315 (GRCh37)
Canonical SPDI:: NC_000016.10:84149709::AC,NC_000016.10:84149709::G
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.01065/178 (TOMMO)
HGVS:: NC_000016.10:g.84149709_84149710insAC, NC_000016.10:g.84149709_84149710insG, NC_000016.9:g.84183314_84183315insAC, NC_000016.9:g.84183314_84183315insG, NG_021174.2:g.9403_9404insAC, NG_021174.2:g.9403_9404insG, NG_021174.1:g.9450_9451insAC, NG_021174.1:g.9450_9451insG

Select item 14912914615.

rs1491291461 has merged into rs994477404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 16:84160947 (GRCh38)
16:84194552 (GRCh37)
Canonical SPDI:: NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:84160936:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.84160947_84160953del, NC_000016.10:g.84160948_84160953del, NC_000016.10:g.84160949_84160953del, NC_000016.10:g.84160950_84160953del, NC_000016.10:g.84160951_84160953del, NC_000016.10:g.84160952_84160953del, NC_000016.10:g.84160953del, NC_000016.10:g.84160953dup, NC_000016.10:g.84160952_84160953dup, NC_000016.10:g.84160951_84160953dup, NC_000016.9:g.84194552_84194558del, NC_000016.9:g.84194553_84194558del, NC_000016.9:g.84194554_84194558del, NC_000016.9:g.84194555_84194558del, NC_000016.9:g.84194556_84194558del, NC_000016.9:g.84194557_84194558del, NC_000016.9:g.84194558del, NC_000016.9:g.84194558dup, NC_000016.9:g.84194557_84194558dup, NC_000016.9:g.84194556_84194558dup, NG_021174.2:g.20641_20647del, NG_021174.2:g.20642_20647del, NG_021174.2:g.20643_20647del, NG_021174.2:g.20644_20647del, NG_021174.2:g.20645_20647del, NG_021174.2:g.20646_20647del, NG_021174.2:g.20647del, NG_021174.2:g.20647dup, NG_021174.2:g.20646_20647dup, NG_021174.2:g.20645_20647dup, NG_021174.1:g.20688_20694del, NG_021174.1:g.20689_20694del, NG_021174.1:g.20690_20694del, NG_021174.1:g.20691_20694del, NG_021174.1:g.20692_20694del, NG_021174.1:g.20693_20694del, NG_021174.1:g.20694del, NG_021174.1:g.20694dup, NG_021174.1:g.20693_20694dup, NG_021174.1:g.20692_20694dup

Select item 14912833906.

rs1491283390 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:84169105 (GRCh38)
16:84202711 (GRCh37)
Canonical SPDI:: NC_000016.10:84169104:TA:
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000026/3 (GnomAD)
HGVS:: NC_000016.10:g.84169105_84169106del, NC_000016.9:g.84202711_84202712del, NG_021174.2:g.28799_28800del, NG_021174.1:g.28847_28848del

Select item 14912092997.

rs1491209299 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:84156850 (GRCh38)
16:84190456 (GRCh37)
Canonical SPDI:: NC_000016.10:84156850:C:CC
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.84156851dup, NC_000016.9:g.84190456dup, NG_021174.2:g.16545dup, NG_021174.1:g.16592dup

Select item 14911549838.

rs1491154983 has merged into rs55903132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 16:84168844 (GRCh38)
16:84202450 (GRCh37)
Canonical SPDI:: NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:84168827:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
-=0./0 (KOREAN)
ACACACACACACAC=0.05/2 (GENOME_DK)
HGVS:: NC_000016.10:g.84168828AC[8], NC_000016.10:g.84168828AC[10], NC_000016.10:g.84168828AC[11], NC_000016.10:g.84168828AC[12], NC_000016.10:g.84168828AC[13], NC_000016.10:g.84168828AC[14], NC_000016.10:g.84168828AC[16], NC_000016.10:g.84168828AC[17], NC_000016.10:g.84168828AC[18], NC_000016.10:g.84168828AC[19], NC_000016.10:g.84168828AC[20], NC_000016.10:g.84168828AC[21], NC_000016.10:g.84168828AC[22], NC_000016.10:g.84168828AC[23], NC_000016.10:g.84168828AC[24], NC_000016.10:g.84168828AC[25], NC_000016.10:g.84168828AC[26], NC_000016.10:g.84168828AC[27], NC_000016.10:g.84168828AC[28], NC_000016.10:g.84168828AC[29], NC_000016.10:g.84168828AC[30], NC_000016.10:g.84168828AC[31], NC_000016.10:g.84168828AC[32], NC_000016.9:g.84202434AC[8], NC_000016.9:g.84202434AC[10], NC_000016.9:g.84202434AC[11], NC_000016.9:g.84202434AC[12], NC_000016.9:g.84202434AC[13], NC_000016.9:g.84202434AC[14], NC_000016.9:g.84202434AC[16], NC_000016.9:g.84202434AC[17], NC_000016.9:g.84202434AC[18], NC_000016.9:g.84202434AC[19], NC_000016.9:g.84202434AC[20], NC_000016.9:g.84202434AC[21], NC_000016.9:g.84202434AC[22], NC_000016.9:g.84202434AC[23], NC_000016.9:g.84202434AC[24], NC_000016.9:g.84202434AC[25], NC_000016.9:g.84202434AC[26], NC_000016.9:g.84202434AC[27], NC_000016.9:g.84202434AC[28], NC_000016.9:g.84202434AC[29], NC_000016.9:g.84202434AC[30], NC_000016.9:g.84202434AC[31], NC_000016.9:g.84202434AC[32], NG_021174.2:g.28522AC[8], NG_021174.2:g.28522AC[10], NG_021174.2:g.28522AC[11], NG_021174.2:g.28522AC[12], NG_021174.2:g.28522AC[13], NG_021174.2:g.28522AC[14], NG_021174.2:g.28522AC[16], NG_021174.2:g.28522AC[17], NG_021174.2:g.28522AC[18], NG_021174.2:g.28522AC[19], NG_021174.2:g.28522AC[20], NG_021174.2:g.28522AC[21], NG_021174.2:g.28522AC[22], NG_021174.2:g.28522AC[23], NG_021174.2:g.28522AC[24], NG_021174.2:g.28522AC[25], NG_021174.2:g.28522AC[26], NG_021174.2:g.28522AC[27], NG_021174.2:g.28522AC[28], NG_021174.2:g.28522AC[29], NG_021174.2:g.28522AC[30], NG_021174.2:g.28522AC[31], NG_021174.2:g.28522AC[32], NG_021174.1:g.28570AC[8], NG_021174.1:g.28570AC[10], NG_021174.1:g.28570AC[11], NG_021174.1:g.28570AC[12], NG_021174.1:g.28570AC[13], NG_021174.1:g.28570AC[14], NG_021174.1:g.28570AC[16], NG_021174.1:g.28570AC[17], NG_021174.1:g.28570AC[18], NG_021174.1:g.28570AC[19], NG_021174.1:g.28570AC[20], NG_021174.1:g.28570AC[21], NG_021174.1:g.28570AC[22], NG_021174.1:g.28570AC[23], NG_021174.1:g.28570AC[24], NG_021174.1:g.28570AC[25], NG_021174.1:g.28570AC[26], NG_021174.1:g.28570AC[27], NG_021174.1:g.28570AC[28], NG_021174.1:g.28570AC[29], NG_021174.1:g.28570AC[30], NG_021174.1:g.28570AC[31], NG_021174.1:g.28570AC[32]

Select item 14911128199.

rs1491112819 has merged into rs71382897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:84163395 (GRCh38)
16:84197001 (GRCh37)
Canonical SPDI:: NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:84163383:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2895/1854 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000016.10:g.84163395_84163398del, NC_000016.10:g.84163396_84163398del, NC_000016.10:g.84163397_84163398del, NC_000016.10:g.84163398del, NC_000016.10:g.84163398dup, NC_000016.10:g.84163397_84163398dup, NC_000016.10:g.84163396_84163398dup, NC_000016.10:g.84163390_84163398dup, NC_000016.9:g.84197001_84197004del, NC_000016.9:g.84197002_84197004del, NC_000016.9:g.84197003_84197004del, NC_000016.9:g.84197004del, NC_000016.9:g.84197004dup, NC_000016.9:g.84197003_84197004dup, NC_000016.9:g.84197002_84197004dup, NC_000016.9:g.84196996_84197004dup, NG_021174.2:g.23089_23092del, NG_021174.2:g.23090_23092del, NG_021174.2:g.23091_23092del, NG_021174.2:g.23092del, NG_021174.2:g.23092dup, NG_021174.2:g.23091_23092dup, NG_021174.2:g.23090_23092dup, NG_021174.2:g.23084_23092dup, NG_021174.1:g.23137_23140del, NG_021174.1:g.23138_23140del, NG_021174.1:g.23139_23140del, NG_021174.1:g.23140del, NG_021174.1:g.23140dup, NG_021174.1:g.23139_23140dup, NG_021174.1:g.23138_23140dup, NG_021174.1:g.23132_23140dup

Select item 149111159810.

rs1491111598 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:84166064 (GRCh38)
16:84199671 (GRCh37)
Canonical SPDI:: NC_000016.10:84166064:A:AA
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000016.10:g.84166065dup, NC_000016.9:g.84199671dup, NG_021174.2:g.25759dup, NG_021174.1:g.25807dup

Select item 149109900911.

rs1491099009 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:84169105 (GRCh38)
16:84202712 (GRCh37)
Canonical SPDI:: NC_000016.10:84169105::C
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000016.10:g.84169105_84169106insC, NC_000016.9:g.84202711_84202712insC, NG_021174.2:g.28799_28800insC, NG_021174.1:g.28847_28848insC

Select item 149109647312.

rs1491096473 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 149105040713.

rs1491050407 has merged into rs574069319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:84152661 (GRCh38)
16:84186266 (GRCh37)
Canonical SPDI:: NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84152647:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAA=0.000004/1 (TOPMED)
AAAA=0.011986/7 (NorthernSweden)
HGVS:: NC_000016.10:g.84152661_84152668del, NC_000016.10:g.84152664_84152668del, NC_000016.10:g.84152665_84152668del, NC_000016.10:g.84152666_84152668del, NC_000016.10:g.84152667_84152668del, NC_000016.10:g.84152668del, NC_000016.10:g.84152668dup, NC_000016.10:g.84152667_84152668dup, NC_000016.10:g.84152666_84152668dup, NC_000016.10:g.84152665_84152668dup, NC_000016.10:g.84152663_84152668dup, NC_000016.9:g.84186266_84186273del, NC_000016.9:g.84186269_84186273del, NC_000016.9:g.84186270_84186273del, NC_000016.9:g.84186271_84186273del, NC_000016.9:g.84186272_84186273del, NC_000016.9:g.84186273del, NC_000016.9:g.84186273dup, NC_000016.9:g.84186272_84186273dup, NC_000016.9:g.84186271_84186273dup, NC_000016.9:g.84186270_84186273dup, NC_000016.9:g.84186268_84186273dup, NG_021174.2:g.12355_12362del, NG_021174.2:g.12358_12362del, NG_021174.2:g.12359_12362del, NG_021174.2:g.12360_12362del, NG_021174.2:g.12361_12362del, NG_021174.2:g.12362del, NG_021174.2:g.12362dup, NG_021174.2:g.12361_12362dup, NG_021174.2:g.12360_12362dup, NG_021174.2:g.12359_12362dup, NG_021174.2:g.12357_12362dup, NG_021174.1:g.12402_12409del, NG_021174.1:g.12405_12409del, NG_021174.1:g.12406_12409del, NG_021174.1:g.12407_12409del, NG_021174.1:g.12408_12409del, NG_021174.1:g.12409del, NG_021174.1:g.12409dup, NG_021174.1:g.12408_12409dup, NG_021174.1:g.12407_12409dup, NG_021174.1:g.12406_12409dup, NG_021174.1:g.12404_12409dup

Select item 149100836214.

rs1491008362 has merged into rs1287215005 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 16:84148594 (GRCh38)
16:84182199 (GRCh37)
Canonical SPDI:: NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000016.10:84148582:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000016.10:g.84148584CT[5], NC_000016.10:g.84148584CT[6], NC_000016.10:g.84148584CT[8], NC_000016.10:g.84148584CT[9], NC_000016.10:g.84148584CT[10], NC_000016.10:g.84148584CT[11], NC_000016.10:g.84148584CT[12], NC_000016.10:g.84148584CT[13], NC_000016.10:g.84148584CT[14], NC_000016.9:g.84182189CT[5], NC_000016.9:g.84182189CT[6], NC_000016.9:g.84182189CT[8], NC_000016.9:g.84182189CT[9], NC_000016.9:g.84182189CT[10], NC_000016.9:g.84182189CT[11], NC_000016.9:g.84182189CT[12], NC_000016.9:g.84182189CT[13], NC_000016.9:g.84182189CT[14], NG_021174.2:g.8278CT[5], NG_021174.2:g.8278CT[6], NG_021174.2:g.8278CT[8], NG_021174.2:g.8278CT[9], NG_021174.2:g.8278CT[10], NG_021174.2:g.8278CT[11], NG_021174.2:g.8278CT[12], NG_021174.2:g.8278CT[13], NG_021174.2:g.8278CT[14], NG_021174.1:g.8325CT[5], NG_021174.1:g.8325CT[6], NG_021174.1:g.8325CT[8], NG_021174.1:g.8325CT[9], NG_021174.1:g.8325CT[10], NG_021174.1:g.8325CT[11], NG_021174.1:g.8325CT[12], NG_021174.1:g.8325CT[13], NG_021174.1:g.8325CT[14]

Select item 149083930215.

rs1490839302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:84154363 (GRCh38)
16:84187968 (GRCh37)
Canonical SPDI:: NC_000016.10:84154362:C:G
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.84154363C>G, NC_000016.9:g.84187968C>G, NG_021174.2:g.14057C>G, NG_021174.1:g.14104C>G

Select item 149082751116.

rs1490827511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84174148 (GRCh38)
16:84207754 (GRCh37)
Canonical SPDI:: NC_000016.10:84174147:G:A
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84174148G>A, NC_000016.9:g.84207754G>A, NG_021174.2:g.33842G>A, NG_021174.1:g.33890G>A

Select item 149074761417.

rs1490747614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84149662 (GRCh38)
16:84183267 (GRCh37)
Canonical SPDI:: NC_000016.10:84149661:G:A
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.84149662G>A, NC_000016.9:g.84183267G>A, NG_021174.2:g.9356G>A, NG_021174.1:g.9403G>A

Select item 149071675618.

rs1490716756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:84151003 (GRCh38)
16:84184608 (GRCh37)
Canonical SPDI:: NC_000016.10:84151002:G:A,NC_000016.10:84151002:G:C
Gene:: DNAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.84151003G>A, NC_000016.10:g.84151003G>C, NC_000016.9:g.84184608G>A, NC_000016.9:g.84184608G>C, NG_021174.2:g.10697G>A, NG_021174.2:g.10697G>C, NG_021174.1:g.10744G>A, NG_021174.1:g.10744G>C

Select item 149069227319.

rs1490692273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:84179242 (GRCh38)
16:84212848 (GRCh37)
Canonical SPDI:: NC_000016.10:84179241:T:C
Gene:: TAF1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.84179242T>C, NC_000016.9:g.84212848T>C, NG_021174.2:g.38936T>C, NG_021174.1:g.38984T>C, XM_006721325.4:c.2312A>G, XM_006721325.3:c.2312A>G, XM_006721325.2:c.2312A>G, XM_006721325.1:c.2312A>G, NM_005679.4:c.2309A>G, NM_005679.3:c.2309A>G, XM_006721326.4:c.2234A>G, XM_006721326.3:c.2234A>G, XM_006721326.2:c.2234A>G, XM_006721326.1:c.2234A>G, XM_005256226.4:c.2309A>G, XM_005256226.3:c.2309A>G, XM_005256226.2:c.2309A>G, XM_005256226.1:c.2309A>G, XM_005256227.4:c.2108A>G, XM_005256227.3:c.2108A>G, XM_005256227.2:c.2108A>G, XM_005256227.1:c.2108A>G, NM_139353.3:c.2027A>G, NM_139353.2:c.2027A>G, NM_001243156.2:c.2231A>G, NM_001243156.1:c.2231A>G, NM_001243159.2:c.1082A>G, NM_001243159.1:c.1082A>G, XM_017023845.2:c.2231A>G, XM_017023845.1:c.2231A>G, XM_017023847.2:c.2030A>G, XM_017023847.1:c.2030A>G, NM_001243160.2:c.878A>G, NM_001243160.1:c.878A>G, NM_001243157.2:c.1313A>G, NM_001243157.1:c.1313A>G, NM_001243158.2:c.1313A>G, NM_001243158.1:c.1313A>G, XP_006721388.1:p.Glu771Gly, NP_005670.4:p.Glu770Gly, XP_006721389.1:p.Glu745Gly, XP_005256283.1:p.Glu770Gly, XP_005256284.1:p.Glu703Gly, NP_647610.3:p.Glu676Gly, NP_001230085.2:p.Glu744Gly, NP_001230088.1:p.Glu361Gly, XP_016879334.1:p.Glu744Gly, XP_016879336.1:p.Glu677Gly, NP_001230089.1:p.Glu293Gly, NP_001230086.1:p.Glu438Gly, NP_001230087.1:p.Glu438Gly

Select item 149067438520.

rs1490674385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84144967 (GRCh38)
16:84178572 (GRCh37)
Canonical SPDI:: NC_000016.10:84144966:G:A
Gene:: HSDL1 (Varview), DNAAF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.84144967G>A, NC_000016.9:g.84178572G>A, NG_021174.2:g.4661G>A, NG_021174.1:g.4708G>A

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