SNP Links for Gene (Select 9856) - SNP

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Select item 14915886941.

rs1491588694 has merged into rs66787757 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:24630520 (GRCh38)
6:24630748 (GRCh37)
Canonical SPDI:: NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24630508:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.24630520_24630531del, NC_000006.12:g.24630521_24630531del, NC_000006.12:g.24630522_24630531del, NC_000006.12:g.24630523_24630531del, NC_000006.12:g.24630524_24630531del, NC_000006.12:g.24630525_24630531del, NC_000006.12:g.24630526_24630531del, NC_000006.12:g.24630527_24630531del, NC_000006.12:g.24630528_24630531del, NC_000006.12:g.24630529_24630531del, NC_000006.12:g.24630530_24630531del, NC_000006.12:g.24630531del, NC_000006.12:g.24630531dup, NC_000006.12:g.24630530_24630531dup, NC_000006.12:g.24630529_24630531dup, NC_000006.12:g.24630528_24630531dup, NC_000006.12:g.24630527_24630531dup, NC_000006.12:g.24630526_24630531dup, NC_000006.12:g.24630525_24630531dup, NC_000006.12:g.24630524_24630531dup, NC_000006.12:g.24630523_24630531dup, NC_000006.12:g.24630522_24630531dup, NC_000006.12:g.24630520_24630531dup, NC_000006.12:g.24630519_24630531dup, NC_000006.12:g.24630516_24630531dup, NC_000006.12:g.24630515_24630531dup, NC_000006.12:g.24630513_24630531dup, NC_000006.12:g.24630531_24630532insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.24630748_24630759del, NC_000006.11:g.24630749_24630759del, NC_000006.11:g.24630750_24630759del, NC_000006.11:g.24630751_24630759del, NC_000006.11:g.24630752_24630759del, NC_000006.11:g.24630753_24630759del, NC_000006.11:g.24630754_24630759del, NC_000006.11:g.24630755_24630759del, NC_000006.11:g.24630756_24630759del, NC_000006.11:g.24630757_24630759del, NC_000006.11:g.24630758_24630759del, NC_000006.11:g.24630759del, NC_000006.11:g.24630759dup, NC_000006.11:g.24630758_24630759dup, NC_000006.11:g.24630757_24630759dup, NC_000006.11:g.24630756_24630759dup, NC_000006.11:g.24630755_24630759dup, NC_000006.11:g.24630754_24630759dup, NC_000006.11:g.24630753_24630759dup, NC_000006.11:g.24630752_24630759dup, NC_000006.11:g.24630751_24630759dup, NC_000006.11:g.24630750_24630759dup, NC_000006.11:g.24630748_24630759dup, NC_000006.11:g.24630747_24630759dup, NC_000006.11:g.24630744_24630759dup, NC_000006.11:g.24630743_24630759dup, NC_000006.11:g.24630741_24630759dup, NC_000006.11:g.24630759_24630760insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016206.1:g.20636_20647del, NG_016206.1:g.20637_20647del, NG_016206.1:g.20638_20647del, NG_016206.1:g.20639_20647del, NG_016206.1:g.20640_20647del, NG_016206.1:g.20641_20647del, NG_016206.1:g.20642_20647del, NG_016206.1:g.20643_20647del, NG_016206.1:g.20644_20647del, NG_016206.1:g.20645_20647del, NG_016206.1:g.20646_20647del, NG_016206.1:g.20647del, NG_016206.1:g.20647dup, NG_016206.1:g.20646_20647dup, NG_016206.1:g.20645_20647dup, NG_016206.1:g.20644_20647dup, NG_016206.1:g.20643_20647dup, NG_016206.1:g.20642_20647dup, NG_016206.1:g.20641_20647dup, NG_016206.1:g.20640_20647dup, NG_016206.1:g.20639_20647dup, NG_016206.1:g.20638_20647dup, NG_016206.1:g.20636_20647dup, NG_016206.1:g.20635_20647dup, NG_016206.1:g.20632_20647dup, NG_016206.1:g.20631_20647dup, NG_016206.1:g.20629_20647dup, NG_016206.1:g.20647_20648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915773392.

rs1491577339 has merged into rs35975247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:24549335 (GRCh38)
6:24549563 (GRCh37)
Canonical SPDI:: NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24549326:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.3247/1626 (1000Genomes)
HGVS:: NC_000006.12:g.24549335_24549345del, NC_000006.12:g.24549337_24549345del, NC_000006.12:g.24549338_24549345del, NC_000006.12:g.24549339_24549345del, NC_000006.12:g.24549340_24549345del, NC_000006.12:g.24549341_24549345del, NC_000006.12:g.24549342_24549345del, NC_000006.12:g.24549343_24549345del, NC_000006.12:g.24549344_24549345del, NC_000006.12:g.24549345del, NC_000006.12:g.24549345dup, NC_000006.12:g.24549344_24549345dup, NC_000006.12:g.24549343_24549345dup, NC_000006.12:g.24549342_24549345dup, NC_000006.12:g.24549341_24549345dup, NC_000006.12:g.24549340_24549345dup, NC_000006.12:g.24549339_24549345dup, NC_000006.12:g.24549338_24549345dup, NC_000006.11:g.24549563_24549573del, NC_000006.11:g.24549565_24549573del, NC_000006.11:g.24549566_24549573del, NC_000006.11:g.24549567_24549573del, NC_000006.11:g.24549568_24549573del, NC_000006.11:g.24549569_24549573del, NC_000006.11:g.24549570_24549573del, NC_000006.11:g.24549571_24549573del, NC_000006.11:g.24549572_24549573del, NC_000006.11:g.24549573del, NC_000006.11:g.24549573dup, NC_000006.11:g.24549572_24549573dup, NC_000006.11:g.24549571_24549573dup, NC_000006.11:g.24549570_24549573dup, NC_000006.11:g.24549569_24549573dup, NC_000006.11:g.24549568_24549573dup, NC_000006.11:g.24549567_24549573dup, NC_000006.11:g.24549566_24549573dup, NG_016206.1:g.101819_101829del, NG_016206.1:g.101821_101829del, NG_016206.1:g.101822_101829del, NG_016206.1:g.101823_101829del, NG_016206.1:g.101824_101829del, NG_016206.1:g.101825_101829del, NG_016206.1:g.101826_101829del, NG_016206.1:g.101827_101829del, NG_016206.1:g.101828_101829del, NG_016206.1:g.101829del, NG_016206.1:g.101829dup, NG_016206.1:g.101828_101829dup, NG_016206.1:g.101827_101829dup, NG_016206.1:g.101826_101829dup, NG_016206.1:g.101825_101829dup, NG_016206.1:g.101824_101829dup, NG_016206.1:g.101823_101829dup, NG_016206.1:g.101822_101829dup

Select item 14915378513.

rs1491537851 has merged into rs60291863 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:24595557 (GRCh38)
6:24595785 (GRCh37)
Canonical SPDI:: NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:24595546:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.24595557_24595570del, NC_000006.12:g.24595558_24595570del, NC_000006.12:g.24595559_24595570del, NC_000006.12:g.24595560_24595570del, NC_000006.12:g.24595561_24595570del, NC_000006.12:g.24595562_24595570del, NC_000006.12:g.24595563_24595570del, NC_000006.12:g.24595564_24595570del, NC_000006.12:g.24595567_24595570del, NC_000006.12:g.24595568_24595570del, NC_000006.12:g.24595569_24595570del, NC_000006.12:g.24595570del, NC_000006.12:g.24595570dup, NC_000006.12:g.24595569_24595570dup, NC_000006.12:g.24595568_24595570dup, NC_000006.12:g.24595567_24595570dup, NC_000006.12:g.24595566_24595570dup, NC_000006.12:g.24595565_24595570dup, NC_000006.12:g.24595564_24595570dup, NC_000006.12:g.24595563_24595570dup, NC_000006.12:g.24595562_24595570dup, NC_000006.12:g.24595561_24595570dup, NC_000006.12:g.24595560_24595570dup, NC_000006.12:g.24595558_24595570dup, NC_000006.12:g.24595556_24595570dup, NC_000006.11:g.24595785_24595798del, NC_000006.11:g.24595786_24595798del, NC_000006.11:g.24595787_24595798del, NC_000006.11:g.24595788_24595798del, NC_000006.11:g.24595789_24595798del, NC_000006.11:g.24595790_24595798del, NC_000006.11:g.24595791_24595798del, NC_000006.11:g.24595792_24595798del, NC_000006.11:g.24595795_24595798del, NC_000006.11:g.24595796_24595798del, NC_000006.11:g.24595797_24595798del, NC_000006.11:g.24595798del, NC_000006.11:g.24595798dup, NC_000006.11:g.24595797_24595798dup, NC_000006.11:g.24595796_24595798dup, NC_000006.11:g.24595795_24595798dup, NC_000006.11:g.24595794_24595798dup, NC_000006.11:g.24595793_24595798dup, NC_000006.11:g.24595792_24595798dup, NC_000006.11:g.24595791_24595798dup, NC_000006.11:g.24595790_24595798dup, NC_000006.11:g.24595789_24595798dup, NC_000006.11:g.24595788_24595798dup, NC_000006.11:g.24595786_24595798dup, NC_000006.11:g.24595784_24595798dup, NG_016206.1:g.55596_55609del, NG_016206.1:g.55597_55609del, NG_016206.1:g.55598_55609del, NG_016206.1:g.55599_55609del, NG_016206.1:g.55600_55609del, NG_016206.1:g.55601_55609del, NG_016206.1:g.55602_55609del, NG_016206.1:g.55603_55609del, NG_016206.1:g.55606_55609del, NG_016206.1:g.55607_55609del, NG_016206.1:g.55608_55609del, NG_016206.1:g.55609del, NG_016206.1:g.55609dup, NG_016206.1:g.55608_55609dup, NG_016206.1:g.55607_55609dup, NG_016206.1:g.55606_55609dup, NG_016206.1:g.55605_55609dup, NG_016206.1:g.55604_55609dup, NG_016206.1:g.55603_55609dup, NG_016206.1:g.55602_55609dup, NG_016206.1:g.55601_55609dup, NG_016206.1:g.55600_55609dup, NG_016206.1:g.55599_55609dup, NG_016206.1:g.55597_55609dup, NG_016206.1:g.55595_55609dup

Select item 14915048214.

rs1491504821 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:24582490 (GRCh38)
6:24582718 (GRCh37)
Canonical SPDI:: NC_000006.12:24582489:TT:
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.24582490_24582491del, NC_000006.11:g.24582718_24582719del, NG_016206.1:g.68665_68666del

Select item 14914925255.

rs1491492525 has merged into rs35713930 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:24600042 (GRCh38)
6:24600270 (GRCh37)
Canonical SPDI:: NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:24600032:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.1666/536 (1000Genomes)
AA=0.4699/1811 (ALSPAC)
HGVS:: NC_000006.12:g.24600042_24600045del, NC_000006.12:g.24600043_24600045del, NC_000006.12:g.24600044_24600045del, NC_000006.12:g.24600045del, NC_000006.12:g.24600045dup, NC_000006.12:g.24600042_24600045dup, NC_000006.12:g.24600041_24600045dup, NC_000006.11:g.24600270_24600273del, NC_000006.11:g.24600271_24600273del, NC_000006.11:g.24600272_24600273del, NC_000006.11:g.24600273del, NC_000006.11:g.24600273dup, NC_000006.11:g.24600270_24600273dup, NC_000006.11:g.24600269_24600273dup, NG_016206.1:g.51120_51123del, NG_016206.1:g.51121_51123del, NG_016206.1:g.51122_51123del, NG_016206.1:g.51123del, NG_016206.1:g.51123dup, NG_016206.1:g.51120_51123dup, NG_016206.1:g.51119_51123dup

Select item 14914868616.

rs1491486861 has merged into rs58826962 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:24593397 (GRCh38)
6:24593625 (GRCh37)
Canonical SPDI:: NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:24593386:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4167/15 (GENOME_DK)
HGVS:: NC_000006.12:g.24593397_24593410del, NC_000006.12:g.24593399_24593410del, NC_000006.12:g.24593401_24593410del, NC_000006.12:g.24593403_24593410del, NC_000006.12:g.24593405_24593410del, NC_000006.12:g.24593406_24593410del, NC_000006.12:g.24593407_24593410del, NC_000006.12:g.24593408_24593410del, NC_000006.12:g.24593409_24593410del, NC_000006.12:g.24593410del, NC_000006.12:g.24593410dup, NC_000006.12:g.24593409_24593410dup, NC_000006.12:g.24593408_24593410dup, NC_000006.12:g.24593407_24593410dup, NC_000006.12:g.24593406_24593410dup, NC_000006.12:g.24593405_24593410dup, NC_000006.12:g.24593404_24593410dup, NC_000006.12:g.24593403_24593410dup, NC_000006.12:g.24593401_24593410dup, NC_000006.12:g.24593400_24593410dup, NC_000006.12:g.24593410_24593411insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.24593410_24593411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.24593625_24593638del, NC_000006.11:g.24593627_24593638del, NC_000006.11:g.24593629_24593638del, NC_000006.11:g.24593631_24593638del, NC_000006.11:g.24593633_24593638del, NC_000006.11:g.24593634_24593638del, NC_000006.11:g.24593635_24593638del, NC_000006.11:g.24593636_24593638del, NC_000006.11:g.24593637_24593638del, NC_000006.11:g.24593638del, NC_000006.11:g.24593638dup, NC_000006.11:g.24593637_24593638dup, NC_000006.11:g.24593636_24593638dup, NC_000006.11:g.24593635_24593638dup, NC_000006.11:g.24593634_24593638dup, NC_000006.11:g.24593633_24593638dup, NC_000006.11:g.24593632_24593638dup, NC_000006.11:g.24593631_24593638dup, NC_000006.11:g.24593629_24593638dup, NC_000006.11:g.24593628_24593638dup, NC_000006.11:g.24593638_24593639insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.24593638_24593639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016206.1:g.57756_57769del, NG_016206.1:g.57758_57769del, NG_016206.1:g.57760_57769del, NG_016206.1:g.57762_57769del, NG_016206.1:g.57764_57769del, NG_016206.1:g.57765_57769del, NG_016206.1:g.57766_57769del, NG_016206.1:g.57767_57769del, NG_016206.1:g.57768_57769del, NG_016206.1:g.57769del, NG_016206.1:g.57769dup, NG_016206.1:g.57768_57769dup, NG_016206.1:g.57767_57769dup, NG_016206.1:g.57766_57769dup, NG_016206.1:g.57765_57769dup, NG_016206.1:g.57764_57769dup, NG_016206.1:g.57763_57769dup, NG_016206.1:g.57762_57769dup, NG_016206.1:g.57760_57769dup, NG_016206.1:g.57759_57769dup, NG_016206.1:g.57769_57770insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016206.1:g.57769_57770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914835177.

rs1491483517 has merged into rs1554164544 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:24594653 (GRCh38)
6:24594881 (GRCh37)
Canonical SPDI:: NC_000006.12:24594642:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:24594642:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24594642:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24594642:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:24594642:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.012136/5 (NorthernSweden)
-=0.025/1 (GENOME_DK)
-=0.043897/11619 (TOPMED)
HGVS:: NC_000006.12:g.24594653_24594654del, NC_000006.12:g.24594654del, NC_000006.12:g.24594654dup, NC_000006.12:g.24594653_24594654dup, NC_000006.12:g.24594652_24594654dup, NC_000006.11:g.24594881_24594882del, NC_000006.11:g.24594882del, NC_000006.11:g.24594882dup, NC_000006.11:g.24594881_24594882dup, NC_000006.11:g.24594880_24594882dup, NG_016206.1:g.56512_56513del, NG_016206.1:g.56513del, NG_016206.1:g.56513dup, NG_016206.1:g.56512_56513dup, NG_016206.1:g.56511_56513dup

Select item 14914648448.

rs1491464844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAG [Show Flanks]
Chromosome:: 6:24642187 (GRCh38)
6:24642416 (GRCh37)
Canonical SPDI:: NC_000006.12:24642187:GAG:GAGGGAG
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGGGAG=0./0 (ALFA)
HGVS:: NC_000006.12:g.24642190_24642191insGGAG, NC_000006.11:g.24642418_24642419insGGAG, NG_016206.1:g.8968_8969insCCTC

Select item 14914578859.

rs1491457885 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:24647405 (GRCh38)
6:24647633 (GRCh37)
Canonical SPDI:: NC_000006.12:24647402:AAAA:AA
Gene:: KIAA0319 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.24647405_24647406del, NC_000006.11:g.24647633_24647634del, NG_016206.1:g.3752_3753del

Select item 149145697610.

rs1491456976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:24608337 (GRCh38)
6:24608565 (GRCh37)
Canonical SPDI:: NC_000006.12:24608335:ATA:A
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.24608337_24608338del, NC_000006.11:g.24608565_24608566del, NG_016206.1:g.42819_42820del

Select item 149144921311.

rs1491449213 has merged into rs71688211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAATAAATAAATAAATAAATAAATAAATAAATAAA>-,TAAA,TAAATAAA,TAAATAAATAAA,TAAATAAATAAATAAA,TAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA [Show Flanks]
Chromosome:: 6:24647423 (GRCh38)
6:24647651 (GRCh37)
Canonical SPDI:: NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000006.12:24647403:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAA=0./0 (ALFA)
-=0.4045/1559 (ALSPAC)
HGVS:: NC_000006.12:g.24647407TAAA[4], NC_000006.12:g.24647407TAAA[5], NC_000006.12:g.24647407TAAA[6], NC_000006.12:g.24647407TAAA[7], NC_000006.12:g.24647407TAAA[8], NC_000006.12:g.24647407TAAA[9], NC_000006.12:g.24647407TAAA[10], NC_000006.12:g.24647407TAAA[11], NC_000006.12:g.24647407TAAA[12], NC_000006.12:g.24647407TAAA[14], NC_000006.12:g.24647407TAAA[15], NC_000006.12:g.24647407TAAA[16], NC_000006.12:g.24647407TAAA[17], NC_000006.11:g.24647635TAAA[4], NC_000006.11:g.24647635TAAA[5], NC_000006.11:g.24647635TAAA[6], NC_000006.11:g.24647635TAAA[7], NC_000006.11:g.24647635TAAA[8], NC_000006.11:g.24647635TAAA[9], NC_000006.11:g.24647635TAAA[10], NC_000006.11:g.24647635TAAA[11], NC_000006.11:g.24647635TAAA[12], NC_000006.11:g.24647635TAAA[14], NC_000006.11:g.24647635TAAA[15], NC_000006.11:g.24647635TAAA[16], NC_000006.11:g.24647635TAAA[17], NG_016206.1:g.3701ATTT[4], NG_016206.1:g.3701ATTT[5], NG_016206.1:g.3701ATTT[6], NG_016206.1:g.3701ATTT[7], NG_016206.1:g.3701ATTT[8], NG_016206.1:g.3701ATTT[9], NG_016206.1:g.3701ATTT[10], NG_016206.1:g.3701ATTT[11], NG_016206.1:g.3701ATTT[12], NG_016206.1:g.3701ATTT[14], NG_016206.1:g.3701ATTT[15], NG_016206.1:g.3701ATTT[16], NG_016206.1:g.3701ATTT[17]

Select item 149144176412.

rs1491441764 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:24630508 (GRCh38)
6:24630736 (GRCh37)
Canonical SPDI:: NC_000006.12:24630507:CA:
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00008/2 (GnomAD)
HGVS:: NC_000006.12:g.24630508_24630509del, NC_000006.11:g.24630736_24630737del, NG_016206.1:g.20647_20648del

Select item 149143927613.

rs1491439276 has merged into rs70974924 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:24638769 (GRCh38)
6:24638997 (GRCh37)
Canonical SPDI:: NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:24638759:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2714/1359 (1000Genomes)
-=0.4289/1653 (ALSPAC)
HGVS:: NC_000006.12:g.24638769_24638773del, NC_000006.12:g.24638771_24638773del, NC_000006.12:g.24638772_24638773del, NC_000006.12:g.24638773del, NC_000006.12:g.24638773dup, NC_000006.12:g.24638772_24638773dup, NC_000006.12:g.24638771_24638773dup, NC_000006.11:g.24638997_24639001del, NC_000006.11:g.24638999_24639001del, NC_000006.11:g.24639000_24639001del, NC_000006.11:g.24639001del, NC_000006.11:g.24639001dup, NC_000006.11:g.24639000_24639001dup, NC_000006.11:g.24638999_24639001dup, NG_016206.1:g.12392_12396del, NG_016206.1:g.12394_12396del, NG_016206.1:g.12395_12396del, NG_016206.1:g.12396del, NG_016206.1:g.12396dup, NG_016206.1:g.12395_12396dup, NG_016206.1:g.12394_12396dup

Select item 149142378414.

rs1491423784 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT,CTTT [Show Flanks]
Chromosome:: 6:24624018 (GRCh38)
6:24624247 (GRCh37)
Canonical SPDI:: NC_000006.12:24624018:TTT:TTTATTT,NC_000006.12:24624018:TTT:TTTCTTT
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00151/17 (ALFA)
TTTC=0.00307/41 (TOMMO)
TTTC=0.03497/60 (Korea1K)
TTTC=0.08133/5586 (GnomAD)
HGVS:: NC_000006.12:g.24624021_24624022insATTT, NC_000006.12:g.24624021_24624022insCTTT, NC_000006.11:g.24624249_24624250insATTT, NC_000006.11:g.24624249_24624250insCTTT, NG_016206.1:g.27137_27138insTAAA, NG_016206.1:g.27137_27138insGAAA

Select item 149141124415.

rs1491411244 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:24597917 (GRCh38)
6:24598145 (GRCh37)
Canonical SPDI:: NC_000006.12:24597916:CA:
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.24597917_24597918del, NC_000006.11:g.24598145_24598146del, NG_016206.1:g.53238_53239del, NG_022349.1:g.66_67del

Select item 149140225316.

rs1491402253 has merged into rs1301187867 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 6:24582498 (GRCh38)
6:24582726 (GRCh37)
Canonical SPDI:: NC_000006.12:24582490:TATATATATAT:TATATAT,NC_000006.12:24582490:TATATATATAT:TATATATAT,NC_000006.12:24582490:TATATATATAT:TATATATATATAT
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.24582492AT[3], NC_000006.12:g.24582492AT[4], NC_000006.12:g.24582492AT[6], NC_000006.11:g.24582720AT[3], NC_000006.11:g.24582720AT[4], NC_000006.11:g.24582720AT[6], NG_016206.1:g.68656TA[3], NG_016206.1:g.68656TA[4], NG_016206.1:g.68656TA[6]

Select item 149136605717.

rs1491366057 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:24632396 (GRCh38)
6:24632624 (GRCh37)
Canonical SPDI:: NC_000006.12:24632395:TA:
Gene:: KIAA0319 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.24632396_24632397del, NC_000006.11:g.24632624_24632625del, NG_016206.1:g.18759_18760del

Select item 149135310618.

rs1491353106 has merged into rs71542684 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 6:24553353 (GRCh38)
6:24553581 (GRCh37)
Canonical SPDI:: NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000006.12:24553340:ATATATATATATATATAT:ATATATATATATATATATATATATATATAT
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000006.12:g.24553341AT[6], NC_000006.12:g.24553341AT[7], NC_000006.12:g.24553341AT[8], NC_000006.12:g.24553341AT[10], NC_000006.12:g.24553341AT[11], NC_000006.12:g.24553341AT[12], NC_000006.12:g.24553341AT[13], NC_000006.12:g.24553341AT[14], NC_000006.12:g.24553341AT[15], NC_000006.11:g.24553569AT[6], NC_000006.11:g.24553569AT[7], NC_000006.11:g.24553569AT[8], NC_000006.11:g.24553569AT[10], NC_000006.11:g.24553569AT[11], NC_000006.11:g.24553569AT[12], NC_000006.11:g.24553569AT[13], NC_000006.11:g.24553569AT[14], NC_000006.11:g.24553569AT[15], NG_016206.1:g.97798AT[6], NG_016206.1:g.97798AT[7], NG_016206.1:g.97798AT[8], NG_016206.1:g.97798AT[10], NG_016206.1:g.97798AT[11], NG_016206.1:g.97798AT[12], NG_016206.1:g.97798AT[13], NG_016206.1:g.97798AT[14], NG_016206.1:g.97798AT[15]

Select item 149135301819.

rs1491353018 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:24579410 (GRCh38)
6:24579638 (GRCh37)
Canonical SPDI:: NC_000006.12:24579408:AAA:A
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000006.12:g.24579410_24579411del, NC_000006.11:g.24579638_24579639del, NG_016206.1:g.71746_71747del

Select item 149134252520.

rs1491342525 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:24571376 (GRCh38)
6:24571605 (GRCh37)
Canonical SPDI:: NC_000006.12:24571376:A:AA
Gene:: KIAA0319 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.0011/2 (Korea1K)
HGVS:: NC_000006.12:g.24571377dup, NC_000006.11:g.24571605dup, NG_016206.1:g.79779dup

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