Links from Gene
Items: 1 to 20 of 1000
1.
rs1491579078 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 22:24979194
(GRCh38)
22:25375162
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24979194:A:AA
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491569756 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 22:25129526
(GRCh38)
22:25525493
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25129523:CACA:CA
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491564011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:24988755
(GRCh38)
22:25384723
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24988755:T:TT
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000023/3
(GnomAD)
- HGVS:
4.
rs1491560880 has merged into rs932233451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:25000507
(GRCh38)
22:25396474
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25000492:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000022.11:g.25000507_25000510del, NC_000022.11:g.25000508_25000510del, NC_000022.11:g.25000509_25000510del, NC_000022.11:g.25000510del, NC_000022.11:g.25000510dup, NC_000022.11:g.25000509_25000510dup, NC_000022.11:g.25000508_25000510dup, NC_000022.11:g.25000507_25000510dup, NC_000022.11:g.25000497_25000510dup, NC_000022.10:g.25396474_25396477del, NC_000022.10:g.25396475_25396477del, NC_000022.10:g.25396476_25396477del, NC_000022.10:g.25396477del, NC_000022.10:g.25396477dup, NC_000022.10:g.25396476_25396477dup, NC_000022.10:g.25396475_25396477dup, NC_000022.10:g.25396474_25396477dup, NC_000022.10:g.25396464_25396477dup
6.
rs1491550963 has merged into rs759898395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:25074505
(GRCh38)
22:25470472
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25074496:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.25074505_25074517del, NC_000022.11:g.25074506_25074517del, NC_000022.11:g.25074507_25074517del, NC_000022.11:g.25074508_25074517del, NC_000022.11:g.25074509_25074517del, NC_000022.11:g.25074510_25074517del, NC_000022.11:g.25074511_25074517del, NC_000022.11:g.25074512_25074517del, NC_000022.11:g.25074513_25074517del, NC_000022.11:g.25074514_25074517del, NC_000022.11:g.25074515_25074517del, NC_000022.11:g.25074516_25074517del, NC_000022.11:g.25074517del, NC_000022.11:g.25074517dup, NC_000022.11:g.25074516_25074517dup, NC_000022.11:g.25074515_25074517dup, NC_000022.11:g.25074514_25074517dup, NC_000022.11:g.25074513_25074517dup, NC_000022.11:g.25074512_25074517dup, NC_000022.11:g.25074511_25074517dup, NC_000022.11:g.25074510_25074517dup, NC_000022.11:g.25074509_25074517dup, NC_000022.11:g.25074517_25074518insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.25470472_25470484del, NC_000022.10:g.25470473_25470484del, NC_000022.10:g.25470474_25470484del, NC_000022.10:g.25470475_25470484del, NC_000022.10:g.25470476_25470484del, NC_000022.10:g.25470477_25470484del, NC_000022.10:g.25470478_25470484del, NC_000022.10:g.25470479_25470484del, NC_000022.10:g.25470480_25470484del, NC_000022.10:g.25470481_25470484del, NC_000022.10:g.25470482_25470484del, NC_000022.10:g.25470483_25470484del, NC_000022.10:g.25470484del, NC_000022.10:g.25470484dup, NC_000022.10:g.25470483_25470484dup, NC_000022.10:g.25470482_25470484dup, NC_000022.10:g.25470481_25470484dup, NC_000022.10:g.25470480_25470484dup, NC_000022.10:g.25470479_25470484dup, NC_000022.10:g.25470478_25470484dup, NC_000022.10:g.25470477_25470484dup, NC_000022.10:g.25470476_25470484dup, NC_000022.10:g.25470484_25470485insAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1491550514 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:25169439
(GRCh38)
22:25565407
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25169439::T
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00006/8
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1491533419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 22:24998346
(GRCh38)
22:25394314
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24998346:GGGG:GGGGG
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0.000071/1
(
ALFA)
G=0.000049/13
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
10.
rs1491524742 has merged into rs951267618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGTGTGTGTGT>-,ATGTGTGTGTGTATGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 22:24985748
(GRCh38)
22:25381715
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24985736:TGTGTGTGTGTATGTGTGTGTGT:TGTGTGTGTGT,NC_000022.11:24985736:TGTGTGTGTGTATGTGTGTGTGT:TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
11.
rs1491511004 has merged into rs57822676 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:25156024
(GRCh38)
22:25551991
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25156012:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
-=0.3974/1990
(1000Genomes)
- HGVS:
NC_000022.11:g.25156024_25156039del, NC_000022.11:g.25156026_25156039del, NC_000022.11:g.25156027_25156039del, NC_000022.11:g.25156028_25156039del, NC_000022.11:g.25156029_25156039del, NC_000022.11:g.25156030_25156039del, NC_000022.11:g.25156031_25156039del, NC_000022.11:g.25156032_25156039del, NC_000022.11:g.25156033_25156039del, NC_000022.11:g.25156034_25156039del, NC_000022.11:g.25156035_25156039del, NC_000022.11:g.25156036_25156039del, NC_000022.11:g.25156037_25156039del, NC_000022.11:g.25156038_25156039del, NC_000022.11:g.25156039del, NC_000022.11:g.25156039dup, NC_000022.11:g.25156038_25156039dup, NC_000022.11:g.25156037_25156039dup, NC_000022.11:g.25156036_25156039dup, NC_000022.11:g.25156035_25156039dup, NC_000022.11:g.25156034_25156039dup, NC_000022.11:g.25156033_25156039dup, NC_000022.11:g.25156032_25156039dup, NC_000022.11:g.25156031_25156039dup, NC_000022.11:g.25156030_25156039dup, NC_000022.11:g.25156029_25156039dup, NC_000022.11:g.25156028_25156039dup, NC_000022.11:g.25156027_25156039dup, NC_000022.11:g.25156026_25156039dup, NC_000022.11:g.25156025_25156039dup, NC_000022.11:g.25156024_25156039dup, NC_000022.11:g.25156023_25156039dup, NC_000022.11:g.25156017_25156039dup, NC_000022.11:g.25156016_25156039dup, NC_000022.11:g.25156013_25156039dup, NC_000022.10:g.25551991_25552006del, NC_000022.10:g.25551993_25552006del, NC_000022.10:g.25551994_25552006del, NC_000022.10:g.25551995_25552006del, NC_000022.10:g.25551996_25552006del, NC_000022.10:g.25551997_25552006del, NC_000022.10:g.25551998_25552006del, NC_000022.10:g.25551999_25552006del, NC_000022.10:g.25552000_25552006del, NC_000022.10:g.25552001_25552006del, NC_000022.10:g.25552002_25552006del, NC_000022.10:g.25552003_25552006del, NC_000022.10:g.25552004_25552006del, NC_000022.10:g.25552005_25552006del, NC_000022.10:g.25552006del, NC_000022.10:g.25552006dup, NC_000022.10:g.25552005_25552006dup, NC_000022.10:g.25552004_25552006dup, NC_000022.10:g.25552003_25552006dup, NC_000022.10:g.25552002_25552006dup, NC_000022.10:g.25552001_25552006dup, NC_000022.10:g.25552000_25552006dup, NC_000022.10:g.25551999_25552006dup, NC_000022.10:g.25551998_25552006dup, NC_000022.10:g.25551997_25552006dup, NC_000022.10:g.25551996_25552006dup, NC_000022.10:g.25551995_25552006dup, NC_000022.10:g.25551994_25552006dup, NC_000022.10:g.25551993_25552006dup, NC_000022.10:g.25551992_25552006dup, NC_000022.10:g.25551991_25552006dup, NC_000022.10:g.25551990_25552006dup, NC_000022.10:g.25551984_25552006dup, NC_000022.10:g.25551983_25552006dup, NC_000022.10:g.25551980_25552006dup
16.
rs1491451435 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 22:24998346
(GRCh38)
22:25394313
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24998345:AG:
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
17.
rs1491448975 has merged into rs67802603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 22:25093703
(GRCh38)
22:25489670
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000022.11:25093682:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACAC=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000022.11:g.25093683AC[10], NC_000022.11:g.25093683AC[11], NC_000022.11:g.25093683AC[12], NC_000022.11:g.25093683AC[13], NC_000022.11:g.25093683AC[14], NC_000022.11:g.25093683AC[15], NC_000022.11:g.25093683AC[16], NC_000022.11:g.25093683AC[17], NC_000022.11:g.25093683AC[18], NC_000022.11:g.25093683AC[19], NC_000022.11:g.25093683AC[20], NC_000022.11:g.25093683AC[21], NC_000022.11:g.25093683AC[22], NC_000022.11:g.25093683AC[23], NC_000022.11:g.25093683AC[24], NC_000022.11:g.25093683AC[25], NC_000022.11:g.25093683AC[26], NC_000022.11:g.25093683AC[27], NC_000022.11:g.25093683AC[29], NC_000022.11:g.25093683AC[30], NC_000022.11:g.25093683AC[31], NC_000022.11:g.25093683AC[32], NC_000022.11:g.25093683AC[33], NC_000022.11:g.25093683AC[34], NC_000022.11:g.25093683AC[35], NC_000022.10:g.25489650AC[10], NC_000022.10:g.25489650AC[11], NC_000022.10:g.25489650AC[12], NC_000022.10:g.25489650AC[13], NC_000022.10:g.25489650AC[14], NC_000022.10:g.25489650AC[15], NC_000022.10:g.25489650AC[16], NC_000022.10:g.25489650AC[17], NC_000022.10:g.25489650AC[18], NC_000022.10:g.25489650AC[19], NC_000022.10:g.25489650AC[20], NC_000022.10:g.25489650AC[21], NC_000022.10:g.25489650AC[22], NC_000022.10:g.25489650AC[23], NC_000022.10:g.25489650AC[24], NC_000022.10:g.25489650AC[25], NC_000022.10:g.25489650AC[26], NC_000022.10:g.25489650AC[27], NC_000022.10:g.25489650AC[29], NC_000022.10:g.25489650AC[30], NC_000022.10:g.25489650AC[31], NC_000022.10:g.25489650AC[32], NC_000022.10:g.25489650AC[33], NC_000022.10:g.25489650AC[34], NC_000022.10:g.25489650AC[35]
18.
rs1491448914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:25165023
(GRCh38)
22:25560990
(GRCh37)
- Canonical SPDI:
- NC_000022.11:25165021:TCT:T
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000061/8
(GnomAD)
- HGVS:
19.
rs1491429146 has merged into rs555493516 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 22:24981092
(GRCh38)
22:25377059
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24981088:TTTTT:TTT,NC_000022.11:24981088:TTTTT:TTTTTTT
- Gene:
- KIAA1671 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0.00697/108
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.01167/7
(NorthernSweden)
-=0.01258/63
(1000Genomes)
-=0.075/3
(GENOME_DK)
- HGVS: