Links from Gene
Items: 1 to 20 of 3032
1.
rs1491509806 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTC,GTGTC,GTGTG,GTGTGTGTG
[Show Flanks]
- Chromosome:
- 19:6504834
(GRCh38)
19:6504846
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6504834::GTC,NC_000019.10:6504834::GTGTC,NC_000019.10:6504834::GTGTG,NC_000019.10:6504834::GTGTGTGTG
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTC=0./0
(
ALFA)
GTGTG=0.000009/1
(GnomAD)
- HGVS:
NC_000019.10:g.6504834_6504835insGTC, NC_000019.10:g.6504834_6504835insGTGTC, NC_000019.10:g.6504834_6504835insGTGTG, NC_000019.10:g.6504834_6504835insGTGTGTGTG, NC_000019.9:g.6504845_6504846insGTC, NC_000019.9:g.6504845_6504846insGTGTC, NC_000019.9:g.6504845_6504846insGTGTG, NC_000019.9:g.6504845_6504846insGTGTGTGTG, NG_033896.1:g.3014_3015insGAC, NG_033896.1:g.3014_3015insGACAC, NG_033896.1:g.3014_3015insCACAC, NG_033896.1:g.3014_3015insCACACACAC, NG_067051.1:g.225_226insGTC, NG_067051.1:g.225_226insGTGTC, NG_067051.1:g.225_226insGTGTG, NG_067051.1:g.225_226insGTGTGTGTG
2.
rs1490994394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6498194
(GRCh38)
19:6498205
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6498193:G:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
3.
rs1490985421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6493821
(GRCh38)
19:6493832
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6493820:A:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
4.
rs1490868199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6500458
(GRCh38)
19:6500469
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6500457:G:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490721814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6498725
(GRCh38)
19:6498736
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6498724:G:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490711911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:6499602
(GRCh38)
19:6499613
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6499601:C:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
7.
rs1490625799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6497930
(GRCh38)
19:6497941
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6497929:G:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490169586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:6494150
(GRCh38)
19:6494161
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6494149:A:C,NC_000019.10:6494149:A:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490101492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6503499
(GRCh38)
19:6503510
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6503498:A:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
10.
rs1489895584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:6499979
(GRCh38)
19:6499990
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6499978:T:C
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489383096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:6496461
(GRCh38)
19:6496472
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6496460:C:G
- Gene:
- TUBB4A (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:
12.
rs1489257876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6496556
(GRCh38)
19:6496567
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6496555:A:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1489241576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:6504067
(GRCh38)
19:6504078
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6504066:C:G
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489108246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6504807
(GRCh38)
19:6504818
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6504806:G:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1488930624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:6497050
(GRCh38)
19:6497061
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6497049:T:A
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00041/25
(GnomAD)
A=0.00196/2
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1488860690 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:6496879
(GRCh38)
19:6496890
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6496878:TG:
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000214/3
(
ALFA)
-=0.000022/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
18.
rs1488084911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:6497691
(GRCh38)
19:6497702
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6497690:A:T
- Gene:
- TUBB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00028/5
(TOMMO)
T=0.00078/5
(1000Genomes)
- HGVS:
19.
rs1487766628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6500926
(GRCh38)
19:6500937
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6500925:A:G
- Gene:
- TUBB4A (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)
- HGVS: