Links from Gene
Items: 1 to 20 of 1000
1.
rs1491584755 has merged into rs371166684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:112075079
(GRCh38)
6:112396282
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.102/52
(NorthernSweden)
T=0.3305/1655
(1000Genomes)
- HGVS:
NC_000006.12:g.112075079_112075084del, NC_000006.12:g.112075081_112075084del, NC_000006.12:g.112075082_112075084del, NC_000006.12:g.112075083_112075084del, NC_000006.12:g.112075084del, NC_000006.12:g.112075084dup, NC_000006.12:g.112075083_112075084dup, NC_000006.12:g.112075082_112075084dup, NC_000006.12:g.112075080_112075084dup, NC_000006.12:g.112075070_112075084dup, NC_000006.12:g.112075069_112075084dup, NC_000006.12:g.112075069_112075084T[41]CTTTTTTTTTTTTTTTTTTTT[1], NW_003871062.1:g.72601_72606del, NW_003871062.1:g.72603_72606del, NW_003871062.1:g.72604_72606del, NW_003871062.1:g.72605_72606del, NW_003871062.1:g.72606del, NW_003871062.1:g.72606dup, NW_003871062.1:g.72605_72606dup, NW_003871062.1:g.72604_72606dup, NW_003871062.1:g.72602_72606dup, NW_003871062.1:g.72592_72606dup, NW_003871062.1:g.72591_72606dup, NW_003871062.1:g.72591_72606T[41]CTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.112396282_112396287del, NC_000006.11:g.112396284_112396287del, NC_000006.11:g.112396285_112396287del, NC_000006.11:g.112396286_112396287del, NC_000006.11:g.112396287del, NC_000006.11:g.112396287dup, NC_000006.11:g.112396286_112396287dup, NC_000006.11:g.112396285_112396287dup, NC_000006.11:g.112396283_112396287dup, NC_000006.11:g.112396273_112396287dup, NC_000006.11:g.112396272_112396287dup, NC_000006.11:g.112396272_112396287T[41]CTTTTTTTTTTTTTTTTTTTT[1]
2.
rs1491175755 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:112075069
(GRCh38)
6:112396273
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112075069::C
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00017/2
(
ALFA)
C=0.00063/26
(GnomAD)
- HGVS:
3.
rs1491073380 has merged into rs201938598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:112075068
(GRCh38)
6:112396271
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112075066:TCT:T
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.007419/88
(
ALFA)
-=0.000212/3
(TOMMO)
-=0.010001/1067
(GnomAD)
-=0.031938/58
(Korea1K)
- HGVS:
4.
rs1491069662 has merged into rs60207053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:112079434
(GRCh38)
6:112400637
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.375/15
(GENOME_DK)
- HGVS:
NC_000006.12:g.112079434_112079436del, NC_000006.12:g.112079435_112079436del, NC_000006.12:g.112079436del, NC_000006.12:g.112079436dup, NC_000006.12:g.112079435_112079436dup, NC_000006.12:g.112079432_112079436dup, NC_000006.12:g.112079431_112079436dup, NC_000006.12:g.112079427_112079436dup, NC_000006.12:g.112079426_112079436dup, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76956_76958del, NW_003871062.1:g.76957_76958del, NW_003871062.1:g.76958del, NW_003871062.1:g.76958dup, NW_003871062.1:g.76957_76958dup, NW_003871062.1:g.76954_76958dup, NW_003871062.1:g.76953_76958dup, NW_003871062.1:g.76949_76958dup, NW_003871062.1:g.76948_76958dup, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400637_112400639del, NC_000006.11:g.112400638_112400639del, NC_000006.11:g.112400639del, NC_000006.11:g.112400639dup, NC_000006.11:g.112400638_112400639dup, NC_000006.11:g.112400635_112400639dup, NC_000006.11:g.112400634_112400639dup, NC_000006.11:g.112400630_112400639dup, NC_000006.11:g.112400629_112400639dup, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAAAAAA
5.
rs1490875851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:112079891
(GRCh38)
6:112401094
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112079890:T:C
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490586921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:112086232
(GRCh38)
6:112407435
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112086231:T:C
- Gene:
- TUBE1 (Varview), FAM229B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490317483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:112086887
(GRCh38)
6:112408090
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112086886:A:C,NC_000006.12:112086886:A:G
- Gene:
- TUBE1 (Varview), FAM229B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
8.
rs1490103534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:112085801
(GRCh38)
6:112407004
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112085800:G:A
- Gene:
- TUBE1 (Varview), FAM229B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490008768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:112076672
(GRCh38)
6:112397875
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112076671:T:C
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489871014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:112077904
(GRCh38)
6:112399107
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112077903:C:T
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
11.
rs1489828108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:112086244
(GRCh38)
6:112407447
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112086243:A:G
- Gene:
- TUBE1 (Varview), FAM229B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489432210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:112085363
(GRCh38)
6:112406566
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112085362:G:A,NC_000006.12:112085362:G:T
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489243062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:112076141
(GRCh38)
6:112397344
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112076140:G:T
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489200333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:112072290
(GRCh38)
6:112393493
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112072289:A:G
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489174089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:112089436
(GRCh38)
6:112410639
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112089435:A:G
- Gene:
- TUBE1 (Varview), FAM229B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489149626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:112073419
(GRCh38)
6:112394622
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112073418:A:G
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
18.
rs1488977615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:112080348
(GRCh38)
6:112401551
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112080347:A:G
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
G=0.000684/2
(KOREAN)
- HGVS:
19.
rs1488965652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:112077442
(GRCh38)
6:112398645
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112077441:G:A,NC_000006.12:112077441:G:T
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488903396 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:112085225
(GRCh38)
6:112406428
(GRCh37)
- Canonical SPDI:
- NC_000006.12:112085224:TTTT:TTT
- Gene:
- TUBE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS: