Links from Gene
Items: 1 to 20 of 1000
1.
rs1490979871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:3156343
(GRCh38)
6:3156577
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3156342:A:G
- Gene:
- TUBB2A (Varview), LOC105374889 (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=0.00046/8
(TOMMO)
- HGVS:
2.
rs1488199755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 6:3158325
(GRCh38)
6:3158559
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3158324:T:A,NC_000006.12:3158324:T:C,NC_000006.12:3158324:T:G
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.5/14
(SGDP_PRJ)
- HGVS:
3.
rs1488116095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:3156873
(GRCh38)
6:3157107
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3156872:T:C
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
4.
rs1486791263 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:3158046
(GRCh38)
6:3158280
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3158045:TTT:TT
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
5.
rs1486576804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:3155005
(GRCh38)
6:3155239
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3155004:G:A
- Gene:
- TUBB2A (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,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.
rs1485693008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:3154547
(GRCh38)
6:3154781
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3154546:G:A
- Gene:
- TUBB2A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1484834826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:3157544
(GRCh38)
6:3157778
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3157543:T:C,NC_000006.12:3157543:T:G
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000006.12:g.3157544T>C, NC_000006.12:g.3157544T>G, NC_000006.11:g.3157778T>C, NC_000006.11:g.3157778T>G, NG_042223.1:g.5006A>G, NG_042223.1:g.5006A>C, NM_001069.3:c.-81A>G, NM_001069.3:c.-81A>C, NM_001069.2:c.-81A>G, NM_001069.2:c.-81A>C, NM_001310315.2:c.-468A>G, NM_001310315.2:c.-468A>C, NM_001310315.1:c.-468A>G, NM_001310315.1:c.-468A>C
8.
rs1484689874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:3153684
(GRCh38)
6:3153918
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3153683:T:C,NC_000006.12:3153683:T:G
- Gene:
- BPHL (Varview), TUBB2A (Varview)
- Functional Consequence:
- downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000006.12:g.3153684T>C, NC_000006.12:g.3153684T>G, NC_000006.11:g.3153918T>C, NC_000006.11:g.3153918T>G, NG_042223.1:g.8866A>G, NG_042223.1:g.8866A>C, NM_001069.3:c.*179A>G, NM_001069.3:c.*179A>C, NM_001069.2:c.*179A>G, NM_001069.2:c.*179A>C, NM_001310315.2:c.*179A>G, NM_001310315.2:c.*179A>C, NM_001310315.1:c.*179A>G, NM_001310315.1:c.*179A>C
10.
rs1484243653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:3157278
(GRCh38)
6:3157512
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3157277:C:T
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1484037589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:3156962
(GRCh38)
6:3157196
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3156961:C:A,NC_000006.12:3156961:C:T
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1483796345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:3159314
(GRCh38)
6:3159548
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3159313:G:A
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
13.
rs1483744125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:3157549
(GRCh38)
6:3157783
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3157548:C:T
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000053/14
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
14.
rs1483339238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:3158650
(GRCh38)
6:3158884
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3158649:T:C
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1483154600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:3157626
(GRCh38)
6:3157860
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3157625:C:T
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483073734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:3156714
(GRCh38)
6:3156948
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3156713:G:A
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1483057471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:3154100
(GRCh38)
6:3154334
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3154099:G:A
- Gene:
- TUBB2A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1482927674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:3156160
(GRCh38)
6:3156394
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3156159:G:A,NC_000006.12:3156159:G:C
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001119/5
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1482678325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:3157190
(GRCh38)
6:3157424
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3157189:C:T
- Gene:
- TUBB2A (Varview), LOC105374889 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1482631809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:3155359
(GRCh38)
6:3155593
(GRCh37)
- Canonical SPDI:
- NC_000006.12:3155358:A:G
- Gene:
- TUBB2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000283/5
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS: