SNP Links for Gene (Select 55567) - SNP

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Select item 14915756701.

rs1491575670 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:21098438 (GRCh38)
16:21109759 (GRCh37)
Canonical SPDI:: NC_000016.10:21098437:CA:
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.21098438_21098439del, NC_000016.9:g.21109759_21109760del, NG_052617.1:g.66003_66004del

Select item 14915680772.

rs1491568077 has merged into rs56049638 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:21020408 (GRCh38)
16:21031730 (GRCh37)
Canonical SPDI:: NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21020397:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.21020408_21020420del, NC_000016.10:g.21020410_21020420del, NC_000016.10:g.21020411_21020420del, NC_000016.10:g.21020412_21020420del, NC_000016.10:g.21020413_21020420del, NC_000016.10:g.21020414_21020420del, NC_000016.10:g.21020415_21020420del, NC_000016.10:g.21020416_21020420del, NC_000016.10:g.21020417_21020420del, NC_000016.10:g.21020418_21020420del, NC_000016.10:g.21020419_21020420del, NC_000016.10:g.21020420del, NC_000016.10:g.21020420dup, NC_000016.10:g.21020419_21020420dup, NC_000016.10:g.21020418_21020420dup, NC_000016.10:g.21020417_21020420dup, NC_000016.10:g.21020416_21020420dup, NC_000016.10:g.21020415_21020420dup, NC_000016.10:g.21020413_21020420dup, NC_000016.10:g.21020412_21020420dup, NC_000016.10:g.21020411_21020420dup, NC_000016.10:g.21020410_21020420dup, NC_000016.10:g.21020409_21020420dup, NC_000016.10:g.21020408_21020420dup, NC_000016.10:g.21020407_21020420dup, NC_000016.10:g.21020406_21020420dup, NC_000016.10:g.21020403_21020420dup, NC_000016.9:g.21031730_21031742del, NC_000016.9:g.21031732_21031742del, NC_000016.9:g.21031733_21031742del, NC_000016.9:g.21031734_21031742del, NC_000016.9:g.21031735_21031742del, NC_000016.9:g.21031736_21031742del, NC_000016.9:g.21031737_21031742del, NC_000016.9:g.21031738_21031742del, NC_000016.9:g.21031739_21031742del, NC_000016.9:g.21031740_21031742del, NC_000016.9:g.21031741_21031742del, NC_000016.9:g.21031742del, NC_000016.9:g.21031742dup, NC_000016.9:g.21031741_21031742dup, NC_000016.9:g.21031740_21031742dup, NC_000016.9:g.21031739_21031742dup, NC_000016.9:g.21031738_21031742dup, NC_000016.9:g.21031737_21031742dup, NC_000016.9:g.21031735_21031742dup, NC_000016.9:g.21031734_21031742dup, NC_000016.9:g.21031733_21031742dup, NC_000016.9:g.21031732_21031742dup, NC_000016.9:g.21031731_21031742dup, NC_000016.9:g.21031730_21031742dup, NC_000016.9:g.21031729_21031742dup, NC_000016.9:g.21031728_21031742dup, NC_000016.9:g.21031725_21031742dup, NG_052617.1:g.144032_144044del, NG_052617.1:g.144034_144044del, NG_052617.1:g.144035_144044del, NG_052617.1:g.144036_144044del, NG_052617.1:g.144037_144044del, NG_052617.1:g.144038_144044del, NG_052617.1:g.144039_144044del, NG_052617.1:g.144040_144044del, NG_052617.1:g.144041_144044del, NG_052617.1:g.144042_144044del, NG_052617.1:g.144043_144044del, NG_052617.1:g.144044del, NG_052617.1:g.144044dup, NG_052617.1:g.144043_144044dup, NG_052617.1:g.144042_144044dup, NG_052617.1:g.144041_144044dup, NG_052617.1:g.144040_144044dup, NG_052617.1:g.144039_144044dup, NG_052617.1:g.144037_144044dup, NG_052617.1:g.144036_144044dup, NG_052617.1:g.144035_144044dup, NG_052617.1:g.144034_144044dup, NG_052617.1:g.144033_144044dup, NG_052617.1:g.144032_144044dup, NG_052617.1:g.144031_144044dup, NG_052617.1:g.144030_144044dup, NG_052617.1:g.144027_144044dup

Select item 14915556753.

rs1491555675 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:20969292 (GRCh38)
16:20980614 (GRCh37)
Canonical SPDI:: NC_000016.10:20969291:AT:
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000076/10 (GnomAD)
HGVS:: NC_000016.10:g.20969292_20969293del, NC_000016.9:g.20980614_20980615del, NG_052617.1:g.195149_195150del

Select item 14915516564.

rs1491551656 has merged into rs1202846920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:21078284 (GRCh38)
16:21089605 (GRCh37)
Canonical SPDI:: NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21078275:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.21078284_21078295del, NC_000016.10:g.21078285_21078295del, NC_000016.10:g.21078286_21078295del, NC_000016.10:g.21078287_21078295del, NC_000016.10:g.21078288_21078295del, NC_000016.10:g.21078289_21078295del, NC_000016.10:g.21078290_21078295del, NC_000016.10:g.21078291_21078295del, NC_000016.10:g.21078292_21078295del, NC_000016.10:g.21078293_21078295del, NC_000016.10:g.21078294_21078295del, NC_000016.10:g.21078295del, NC_000016.10:g.21078295dup, NC_000016.10:g.21078294_21078295dup, NC_000016.10:g.21078293_21078295dup, NC_000016.10:g.21078292_21078295dup, NC_000016.10:g.21078291_21078295dup, NC_000016.10:g.21078290_21078295dup, NC_000016.10:g.21078279_21078295dup, NC_000016.9:g.21089605_21089616del, NC_000016.9:g.21089606_21089616del, NC_000016.9:g.21089607_21089616del, NC_000016.9:g.21089608_21089616del, NC_000016.9:g.21089609_21089616del, NC_000016.9:g.21089610_21089616del, NC_000016.9:g.21089611_21089616del, NC_000016.9:g.21089612_21089616del, NC_000016.9:g.21089613_21089616del, NC_000016.9:g.21089614_21089616del, NC_000016.9:g.21089615_21089616del, NC_000016.9:g.21089616del, NC_000016.9:g.21089616dup, NC_000016.9:g.21089615_21089616dup, NC_000016.9:g.21089614_21089616dup, NC_000016.9:g.21089613_21089616dup, NC_000016.9:g.21089612_21089616dup, NC_000016.9:g.21089611_21089616dup, NC_000016.9:g.21089600_21089616dup, NG_052617.1:g.86155_86166del, NG_052617.1:g.86156_86166del, NG_052617.1:g.86157_86166del, NG_052617.1:g.86158_86166del, NG_052617.1:g.86159_86166del, NG_052617.1:g.86160_86166del, NG_052617.1:g.86161_86166del, NG_052617.1:g.86162_86166del, NG_052617.1:g.86163_86166del, NG_052617.1:g.86164_86166del, NG_052617.1:g.86165_86166del, NG_052617.1:g.86166del, NG_052617.1:g.86166dup, NG_052617.1:g.86165_86166dup, NG_052617.1:g.86164_86166dup, NG_052617.1:g.86163_86166dup, NG_052617.1:g.86162_86166dup, NG_052617.1:g.86161_86166dup, NG_052617.1:g.86150_86166dup

Select item 14915458745.

rs1491545874 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:21138340 (GRCh38)
16:21149661 (GRCh37)
Canonical SPDI:: NC_000016.10:21138339:GGGG:GGG,NC_000016.10:21138339:GGGG:GGGGG
Gene:: DNAH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.21138343del, NC_000016.10:g.21138343dup, NC_000016.9:g.21149664del, NC_000016.9:g.21149664dup, NG_052617.1:g.26102del, NG_052617.1:g.26102dup

Select item 14915390546.

rs1491539054 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:20936166 (GRCh38)
16:20947488 (GRCh37)
Canonical SPDI:: NC_000016.10:20936164:TCT:T
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.00041/52 (GnomAD)
HGVS:: NC_000016.10:g.20936166_20936167del, NC_000016.9:g.20947488_20947489del, NG_052617.1:g.228276_228277del

Select item 14915329557.

rs1491532955 has merged into rs567074716 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 16:20972247 (GRCh38)
16:20983569 (GRCh37)
Canonical SPDI:: NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:20972238:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.028333/17 (NorthernSweden)
T=0.125/5 (GENOME_DK)
T=0.139976/701 (1000Genomes)
HGVS:: NC_000016.10:g.20972247_20972251del, NC_000016.10:g.20972248_20972251del, NC_000016.10:g.20972249_20972251del, NC_000016.10:g.20972250_20972251del, NC_000016.10:g.20972251del, NC_000016.10:g.20972251dup, NC_000016.10:g.20972250_20972251dup, NC_000016.9:g.20983569_20983573del, NC_000016.9:g.20983570_20983573del, NC_000016.9:g.20983571_20983573del, NC_000016.9:g.20983572_20983573del, NC_000016.9:g.20983573del, NC_000016.9:g.20983573dup, NC_000016.9:g.20983572_20983573dup, NG_052617.1:g.192199_192203del, NG_052617.1:g.192200_192203del, NG_052617.1:g.192201_192203del, NG_052617.1:g.192202_192203del, NG_052617.1:g.192203del, NG_052617.1:g.192203dup, NG_052617.1:g.192202_192203dup

Select item 14915043318.

rs1491504331 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TATAT,TATATATAT,TATATATATATATATATAT,TATATATATATATATATATAT,TATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 16:21020368 (GRCh38)
16:21031691 (GRCh37)
Canonical SPDI:: NC_000016.10:21020368::T,NC_000016.10:21020368::TATAT,NC_000016.10:21020368::TATATATAT,NC_000016.10:21020368::TATATATATATATATATAT,NC_000016.10:21020368::TATATATATATATATATATAT,NC_000016.10:21020368::TATATATATATATATATATATATATAT
Gene:: DNAH3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
HGVS:: NC_000016.10:g.21020368_21020369insT, NC_000016.10:g.21020368_21020369insTATAT, NC_000016.10:g.21020368_21020369insTATATATAT, NC_000016.10:g.21020368_21020369insTATATATATATATATATAT, NC_000016.10:g.21020368_21020369insTATATATATATATATATATAT, NC_000016.10:g.21020368_21020369insTATATATATATATATATATATATATAT, NC_000016.9:g.21031690_21031691insT, NC_000016.9:g.21031690_21031691insTATAT, NC_000016.9:g.21031690_21031691insTATATATAT, NC_000016.9:g.21031690_21031691insTATATATATATATATATAT, NC_000016.9:g.21031690_21031691insTATATATATATATATATATAT, NC_000016.9:g.21031690_21031691insTATATATATATATATATATATATATAT, NG_052617.1:g.144073_144074insA, NG_052617.1:g.144073_144074insATATA, NG_052617.1:g.144073_144074insATATATATA, NG_052617.1:g.144073_144074insATATATATATATATATATA, NG_052617.1:g.144073_144074insATATATATATATATATATATA, NG_052617.1:g.144073_144074insATATATATATATATATATATATATATA

Select item 14914977419.

rs1491497741 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:21138339 (GRCh38)
16:21149660 (GRCh37)
Canonical SPDI:: NC_000016.10:21138338:AG:
Gene:: DNAH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000531/9 (TOMMO)
-=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.21138339_21138340del, NC_000016.9:g.21149660_21149661del, NG_052617.1:g.26102_26103del

Select item 149148181110.

rs1491481811 has merged into rs557821553 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 16:21109742 (GRCh38)
16:21121063 (GRCh37)
Canonical SPDI:: NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:21109734:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: DNAH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000016.10:g.21109742_21109746del, NC_000016.10:g.21109743_21109746del, NC_000016.10:g.21109745_21109746del, NC_000016.10:g.21109746del, NC_000016.10:g.21109746dup, NC_000016.10:g.21109745_21109746dup, NC_000016.10:g.21109744_21109746dup, NC_000016.9:g.21121063_21121067del, NC_000016.9:g.21121064_21121067del, NC_000016.9:g.21121066_21121067del, NC_000016.9:g.21121067del, NC_000016.9:g.21121067dup, NC_000016.9:g.21121066_21121067dup, NC_000016.9:g.21121065_21121067dup, NG_052617.1:g.54703_54707del, NG_052617.1:g.54704_54707del, NG_052617.1:g.54706_54707del, NG_052617.1:g.54707del, NG_052617.1:g.54707dup, NG_052617.1:g.54706_54707dup, NG_052617.1:g.54705_54707dup

Select item 149147723411.

rs1491477234 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:21078275 (GRCh38)
16:21089596 (GRCh37)
Canonical SPDI:: NC_000016.10:21078274:CA:
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.21078275_21078276del, NC_000016.9:g.21089596_21089597del, NG_052617.1:g.86166_86167del

Select item 149146883012.

rs1491468830 has merged into rs57032212 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:21098450 (GRCh38)
16:21109771 (GRCh37)
Canonical SPDI:: NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21098438:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21098450_21098458del, NC_000016.10:g.21098452_21098458del, NC_000016.10:g.21098455_21098458del, NC_000016.10:g.21098456_21098458del, NC_000016.10:g.21098457_21098458del, NC_000016.10:g.21098458del, NC_000016.10:g.21098458dup, NC_000016.10:g.21098457_21098458dup, NC_000016.10:g.21098456_21098458dup, NC_000016.10:g.21098455_21098458dup, NC_000016.10:g.21098454_21098458dup, NC_000016.10:g.21098453_21098458dup, NC_000016.10:g.21098452_21098458dup, NC_000016.10:g.21098451_21098458dup, NC_000016.10:g.21098450_21098458dup, NC_000016.10:g.21098448_21098458dup, NC_000016.10:g.21098447_21098458dup, NC_000016.10:g.21098446_21098458dup, NC_000016.10:g.21098445_21098458dup, NC_000016.10:g.21098443_21098458dup, NC_000016.10:g.21098442_21098458dup, NC_000016.10:g.21098441_21098458dup, NC_000016.10:g.21098458_21098459insAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.21098458_21098459insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.21109771_21109779del, NC_000016.9:g.21109773_21109779del, NC_000016.9:g.21109776_21109779del, NC_000016.9:g.21109777_21109779del, NC_000016.9:g.21109778_21109779del, NC_000016.9:g.21109779del, NC_000016.9:g.21109779dup, NC_000016.9:g.21109778_21109779dup, NC_000016.9:g.21109777_21109779dup, NC_000016.9:g.21109776_21109779dup, NC_000016.9:g.21109775_21109779dup, NC_000016.9:g.21109774_21109779dup, NC_000016.9:g.21109773_21109779dup, NC_000016.9:g.21109772_21109779dup, NC_000016.9:g.21109771_21109779dup, NC_000016.9:g.21109769_21109779dup, NC_000016.9:g.21109768_21109779dup, NC_000016.9:g.21109767_21109779dup, NC_000016.9:g.21109766_21109779dup, NC_000016.9:g.21109764_21109779dup, NC_000016.9:g.21109763_21109779dup, NC_000016.9:g.21109762_21109779dup, NC_000016.9:g.21109779_21109780insAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.21109779_21109780insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052617.1:g.65995_66003del, NG_052617.1:g.65997_66003del, NG_052617.1:g.66000_66003del, NG_052617.1:g.66001_66003del, NG_052617.1:g.66002_66003del, NG_052617.1:g.66003del, NG_052617.1:g.66003dup, NG_052617.1:g.66002_66003dup, NG_052617.1:g.66001_66003dup, NG_052617.1:g.66000_66003dup, NG_052617.1:g.65999_66003dup, NG_052617.1:g.65998_66003dup, NG_052617.1:g.65997_66003dup, NG_052617.1:g.65996_66003dup, NG_052617.1:g.65995_66003dup, NG_052617.1:g.65993_66003dup, NG_052617.1:g.65992_66003dup, NG_052617.1:g.65991_66003dup, NG_052617.1:g.65990_66003dup, NG_052617.1:g.65988_66003dup, NG_052617.1:g.65987_66003dup, NG_052617.1:g.65986_66003dup, NG_052617.1:g.66003_66004insTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.66003_66004insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149146124813.

rs1491461248 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:20959610 (GRCh38)
16:20970932 (GRCh37)
Canonical SPDI:: NC_000016.10:20959608:AAA:A
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013045/212 (ALFA)
-=0.013661/1372 (GnomAD)
-=0.035/21 (NorthernSweden)
HGVS:: NC_000016.10:g.20959610_20959611del, NC_000016.9:g.20970932_20970933del, NG_052617.1:g.204832_204833del

Select item 149145895114.

rs1491458951 [Homo sapiens]

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

Select item 149145029315.

rs1491450293 has merged into rs35833656 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 16:21067767 (GRCh38)
16:21079088 (GRCh37)
Canonical SPDI:: NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000016.10:21067757:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.21067767_21067768del, NC_000016.10:g.21067768del, NC_000016.10:g.21067768dup, NC_000016.10:g.21067767_21067768dup, NC_000016.10:g.21067766_21067768dup, NC_000016.10:g.21067765_21067768dup, NC_000016.10:g.21067764_21067768dup, NC_000016.10:g.21067763_21067768dup, NC_000016.10:g.21067761_21067768dup, NC_000016.10:g.21067759_21067768dup, NC_000016.10:g.21067758_21067768dup, NC_000016.10:g.21067768_21067769insGGGGGGGGGGGGGGGGGGG, NC_000016.10:g.21067768_21067769insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000016.9:g.21079088_21079089del, NC_000016.9:g.21079089del, NC_000016.9:g.21079089dup, NC_000016.9:g.21079088_21079089dup, NC_000016.9:g.21079087_21079089dup, NC_000016.9:g.21079086_21079089dup, NC_000016.9:g.21079085_21079089dup, NC_000016.9:g.21079084_21079089dup, NC_000016.9:g.21079082_21079089dup, NC_000016.9:g.21079080_21079089dup, NC_000016.9:g.21079079_21079089dup, NC_000016.9:g.21079089_21079090insGGGGGGGGGGGGGGGGGGG, NC_000016.9:g.21079089_21079090insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_052617.1:g.96683_96684del, NG_052617.1:g.96684del, NG_052617.1:g.96684dup, NG_052617.1:g.96683_96684dup, NG_052617.1:g.96682_96684dup, NG_052617.1:g.96681_96684dup, NG_052617.1:g.96680_96684dup, NG_052617.1:g.96679_96684dup, NG_052617.1:g.96677_96684dup, NG_052617.1:g.96675_96684dup, NG_052617.1:g.96674_96684dup, NG_052617.1:g.96684_96685insCCCCCCCCCCCCCCCCCCC, NG_052617.1:g.96684_96685insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 149144619116.

rs1491446191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 16:21064859 (GRCh38)
16:21076181 (GRCh37)
Canonical SPDI:: NC_000016.10:21064859:GG:GGGG
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000245/4 (ALFA)
GG=0.000159/18 (GnomAD)
HGVS:: NC_000016.10:g.21064860_21064861dup, NC_000016.9:g.21076181_21076182dup, NG_052617.1:g.99581_99582dup

Select item 149141536517.

rs1491415365 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:20970864 (GRCh38)
16:20982187 (GRCh37)
Canonical SPDI:: NC_000016.10:20970864::A
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.20970864_20970865insA, NC_000016.9:g.20982186_20982187insA, NG_052617.1:g.193577_193578insT

Select item 149141374018.

rs1491413740 has merged into rs766015503 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 16:21128878 (GRCh38)
16:21140199 (GRCh37)
Canonical SPDI:: NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:21128865:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000016.10:g.21128878_21128884del, NC_000016.10:g.21128879_21128884del, NC_000016.10:g.21128880_21128884del, NC_000016.10:g.21128881_21128884del, NC_000016.10:g.21128882_21128884del, NC_000016.10:g.21128883_21128884del, NC_000016.10:g.21128884del, NC_000016.10:g.21128884dup, NC_000016.10:g.21128883_21128884dup, NC_000016.10:g.21128882_21128884dup, NC_000016.10:g.21128881_21128884dup, NC_000016.9:g.21140199_21140205del, NC_000016.9:g.21140200_21140205del, NC_000016.9:g.21140201_21140205del, NC_000016.9:g.21140202_21140205del, NC_000016.9:g.21140203_21140205del, NC_000016.9:g.21140204_21140205del, NC_000016.9:g.21140205del, NC_000016.9:g.21140205dup, NC_000016.9:g.21140204_21140205dup, NC_000016.9:g.21140203_21140205dup, NC_000016.9:g.21140202_21140205dup, NG_052617.1:g.35570_35576del, NG_052617.1:g.35571_35576del, NG_052617.1:g.35572_35576del, NG_052617.1:g.35573_35576del, NG_052617.1:g.35574_35576del, NG_052617.1:g.35575_35576del, NG_052617.1:g.35576del, NG_052617.1:g.35576dup, NG_052617.1:g.35575_35576dup, NG_052617.1:g.35574_35576dup, NG_052617.1:g.35573_35576dup

Select item 149141309019.

rs1491413090 has merged into rs61475224 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:20984042 (GRCh38)
16:20995364 (GRCh37)
Canonical SPDI:: NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20984029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.20984042_20984045del, NC_000016.10:g.20984043_20984045del, NC_000016.10:g.20984044_20984045del, NC_000016.10:g.20984045del, NC_000016.10:g.20984045dup, NC_000016.10:g.20984044_20984045dup, NC_000016.10:g.20984043_20984045dup, NC_000016.10:g.20984042_20984045dup, NC_000016.10:g.20984041_20984045dup, NC_000016.10:g.20984040_20984045dup, NC_000016.10:g.20984039_20984045dup, NC_000016.10:g.20984038_20984045dup, NC_000016.10:g.20984037_20984045dup, NC_000016.10:g.20984036_20984045dup, NC_000016.10:g.20984035_20984045dup, NC_000016.10:g.20984034_20984045dup, NC_000016.10:g.20984033_20984045dup, NC_000016.10:g.20984032_20984045dup, NC_000016.10:g.20984031_20984045dup, NC_000016.10:g.20984030_20984045dup, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20984045_20984046insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995364_20995367del, NC_000016.9:g.20995365_20995367del, NC_000016.9:g.20995366_20995367del, NC_000016.9:g.20995367del, NC_000016.9:g.20995367dup, NC_000016.9:g.20995366_20995367dup, NC_000016.9:g.20995365_20995367dup, NC_000016.9:g.20995364_20995367dup, NC_000016.9:g.20995363_20995367dup, NC_000016.9:g.20995362_20995367dup, NC_000016.9:g.20995361_20995367dup, NC_000016.9:g.20995360_20995367dup, NC_000016.9:g.20995359_20995367dup, NC_000016.9:g.20995358_20995367dup, NC_000016.9:g.20995357_20995367dup, NC_000016.9:g.20995356_20995367dup, NC_000016.9:g.20995355_20995367dup, NC_000016.9:g.20995354_20995367dup, NC_000016.9:g.20995353_20995367dup, NC_000016.9:g.20995352_20995367dup, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20995367_20995368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052617.1:g.180409_180412del, NG_052617.1:g.180410_180412del, NG_052617.1:g.180411_180412del, NG_052617.1:g.180412del, NG_052617.1:g.180412dup, NG_052617.1:g.180411_180412dup, NG_052617.1:g.180410_180412dup, NG_052617.1:g.180409_180412dup, NG_052617.1:g.180408_180412dup, NG_052617.1:g.180407_180412dup, NG_052617.1:g.180406_180412dup, NG_052617.1:g.180405_180412dup, NG_052617.1:g.180404_180412dup, NG_052617.1:g.180403_180412dup, NG_052617.1:g.180402_180412dup, NG_052617.1:g.180401_180412dup, NG_052617.1:g.180400_180412dup, NG_052617.1:g.180399_180412dup, NG_052617.1:g.180398_180412dup, NG_052617.1:g.180397_180412dup, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052617.1:g.180412_180413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149141233620.

rs1491412336 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:21124646 (GRCh38)
16:21135968 (GRCh37)
Canonical SPDI:: NC_000016.10:21124646::G
Gene:: DNAH3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.21124646_21124647insG, NC_000016.9:g.21135967_21135968insG, NG_052617.1:g.39795_39796insC

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