Links from Gene
Items: 1 to 20 of 1000
1.
rs1491421130 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:19182666
(GRCh38)
13:19756806
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182664:AGA:A
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00062/17
(TOMMO)
- HGVS:
2.
rs1491199277 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:19187742
(GRCh38)
13:19761882
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19187741:CA:
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01652/196
(
ALFA)
-=0.00159/45
(TOMMO)
- HGVS:
3.
rs1491106224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:19182661
(GRCh38)
13:19756801
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182659:AGA:A
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.082785/982
(
ALFA)
-=0.023762/397
(TOMMO)
-=0.03548/65
(Korea1K)
-=0.044983/26
(NorthernSweden)
-=0.05/2
(GENOME_DK)
-=0.072392/279
(ALSPAC)
-=0.076321/283
(TWINSUK)
-=0.089656/10819
(GnomAD)
- HGVS:
4.
rs1490984361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:19182778
(GRCh38)
13:19756918
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182777:C:T
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490896806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 13:19182230
(GRCh38)
13:19756370
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182229:G:C,NC_000013.11:19182229:G:T
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
6.
rs1490847852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 13:19187797
(GRCh38)
13:19761938
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19187797:AAAA:AAAAA
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
7.
rs1490846131 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 13:19182864
(GRCh38)
13:19757005
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182864:AT:ATAT
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
AT=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490641117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:19187545
(GRCh38)
13:19761685
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19187544:T:G
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000779/13
(TOMMO)
- HGVS:
9.
rs1489939880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:19181266
(GRCh38)
13:19755406
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19181265:G:C
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489778435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:19184706
(GRCh38)
13:19758846
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19184705:C:A
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489242089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:19187354
(GRCh38)
13:19761494
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19187353:C:G
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489153618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:19180410
(GRCh38)
13:19754550
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19180409:G:A
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488828794 has merged into rs61031911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 13:19186716
(GRCh38)
13:19760856
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:19186697:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000013.11:g.19186698GT[9], NC_000013.11:g.19186698GT[11], NC_000013.11:g.19186698GT[12], NC_000013.11:g.19186698GT[13], NC_000013.11:g.19186698GT[14], NC_000013.11:g.19186698GT[15], NC_000013.11:g.19186698GT[16], NC_000013.11:g.19186698GT[17], NC_000013.11:g.19186698GT[19], NC_000013.11:g.19186698GT[20], NC_000013.11:g.19186698GT[21], NC_000013.11:g.19186698GT[22], NC_000013.11:g.19186698GT[23], NC_000013.11:g.19186698GT[24], NC_000013.11:g.19186698GT[25], NC_000013.11:g.19186698GT[26], NC_000013.11:g.19186698GT[27], NC_000013.11:g.19186698GT[28], NC_000013.11:g.19186698GT[29], NC_000013.11:g.19186698GT[30], NC_000013.11:g.19186698GT[31], NC_000013.11:g.19186698GT[32], NC_000013.11:g.19186698GT[33], NC_000013.10:g.19760838GT[9], NC_000013.10:g.19760838GT[11], NC_000013.10:g.19760838GT[12], NC_000013.10:g.19760838GT[13], NC_000013.10:g.19760838GT[14], NC_000013.10:g.19760838GT[15], NC_000013.10:g.19760838GT[16], NC_000013.10:g.19760838GT[17], NC_000013.10:g.19760838GT[19], NC_000013.10:g.19760838GT[20], NC_000013.10:g.19760838GT[21], NC_000013.10:g.19760838GT[22], NC_000013.10:g.19760838GT[23], NC_000013.10:g.19760838GT[24], NC_000013.10:g.19760838GT[25], NC_000013.10:g.19760838GT[26], NC_000013.10:g.19760838GT[27], NC_000013.10:g.19760838GT[28], NC_000013.10:g.19760838GT[29], NC_000013.10:g.19760838GT[30], NC_000013.10:g.19760838GT[31], NC_000013.10:g.19760838GT[32], NC_000013.10:g.19760838GT[33]
15.
rs1487522444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:19182311
(GRCh38)
13:19756451
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182310:A:G
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1487278114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:19183087
(GRCh38)
13:19757227
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19183086:A:C
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487085155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:19182525
(GRCh38)
13:19756665
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182524:G:A
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
18.
rs1486804186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:19185012
(GRCh38)
13:19759152
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19185011:G:A
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1486751998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:19186048
(GRCh38)
13:19760188
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19186047:T:A
- Gene:
- LOC101928697 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1486678299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:19182442
(GRCh38)
13:19756582
(GRCh37)
- Canonical SPDI:
- NC_000013.11:19182441:A:G
- Gene:
- TUBA3C (Varview), LOC101928697 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: