Links from Gene
Items: 1 to 20 of 1000
1.
rs1490679100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:53049607
(GRCh38)
12:53443391
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53049606:C:A
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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)
- HGVS:
2.
rs1490448828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:53050080
(GRCh38)
12:53443864
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53050079:C:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490122931 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:53055928
(GRCh38)
12:53449712
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53055927:CCC:CC
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
4.
rs1489843870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:53053940
(GRCh38)
12:53447724
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53053939:C:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489519641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:53056379
(GRCh38)
12:53450163
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53056378:C:G
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1489457611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:53055388
(GRCh38)
12:53449172
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53055387:A:G
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
8.
rs1489071887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:53043702
(GRCh38)
12:53437486
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53043701:A:G
- Gene:
- TNS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
9.
rs1488661785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:53051165
(GRCh38)
12:53444949
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53051164:A:C
- Gene:
- TNS2 (Varview), TNS2-AS1 (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:
10.
rs1488659848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:53047305
(GRCh38)
12:53441089
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047304:T:G
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
11.
rs1488608077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 12:53047602
(GRCh38)
12:53441386
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047601:G:C,NC_000012.12:53047601:G:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000038/10
(TOPMED)
- HGVS:
12.
rs1488537364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:53055939
(GRCh38)
12:53449723
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53055938:G:A
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
A=0.000546/1
(Korea1K)
- HGVS:
13.
rs1488475268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:53054895
(GRCh38)
12:53448679
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53054894:A:G,NC_000012.12:53054894:A:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488423431 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CTCCT>-
[Show Flanks]
- Chromosome:
- 12:53049180
(GRCh38)
12:53442964
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53049179:CTCCT:
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.53049180_53049184del, NC_000012.11:g.53442964_53442968del, XM_006719302.4:c.37_41del, XM_006719302.3:c.37_41del, XM_006719302.2:c.37_41del, XM_006719302.1:c.37_41del, NM_015319.2:c.37_41del, XM_047428604.1:c.37_41del, XP_006719365.1:p.Leu13fs, NP_056134.2:p.Leu13fs, XP_047284560.1:p.Leu13fs
15.
rs1488400638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:53052798
(GRCh38)
12:53446582
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53052797:T:G
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00607/98
(
ALFA)
G=0.00176/3
(Korea1K)
G=0.00233/10
(Estonian)
G=0.00451/68
(TOMMO)
G=0.08525/245
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1488202554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:53047945
(GRCh38)
12:53441729
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047944:C:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488160033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 12:53054836
(GRCh38)
12:53448620
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53054835:C:A,NC_000012.12:53054835:C:G,NC_000012.12:53054835:C:T
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
18.
rs1487827613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:53047884
(GRCh38)
12:53441668
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047883:G:C
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1487786045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:53047639
(GRCh38)
12:53441423
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047638:G:A
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1487696077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:53047093
(GRCh38)
12:53440877
(GRCh37)
- Canonical SPDI:
- NC_000012.12:53047092:G:A
- Gene:
- TNS2 (Varview), TNS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: