Links from Gene
Items: 1 to 20 of 1000
2.
rs1491476889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAAAA
[Show Flanks]
- Chromosome:
- 1:54044342
(GRCh38)
1:54510016
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54044342:AAAAAA:AAAAAAGAAAAAA
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAGAAAAAA=0./0
(
ALFA)
AAAAAAG=0.0001/7
(GnomAD)
- HGVS:
3.
rs1491308647 has merged into rs71063899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:54044352
(GRCh38)
1:54510025
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.54044352_54044360del, NC_000001.11:g.54044353_54044360del, NC_000001.11:g.54044354_54044360del, NC_000001.11:g.54044355_54044360del, NC_000001.11:g.54044356_54044360del, NC_000001.11:g.54044357_54044360del, NC_000001.11:g.54044358_54044360del, NC_000001.11:g.54044359_54044360del, NC_000001.11:g.54044360del, NC_000001.11:g.54044360dup, NC_000001.11:g.54044359_54044360dup, NC_000001.11:g.54044358_54044360dup, NC_000001.11:g.54044357_54044360dup, NC_000001.11:g.54044356_54044360dup, NC_000001.11:g.54044355_54044360dup, NC_000001.11:g.54044354_54044360dup, NC_000001.11:g.54044353_54044360dup, NC_000001.11:g.54044352_54044360dup, NC_000001.11:g.54044351_54044360dup, NC_000001.11:g.54044350_54044360dup, NC_000001.11:g.54044349_54044360dup, NC_000001.11:g.54044346_54044360dup, NC_000001.10:g.54510025_54510033del, NC_000001.10:g.54510026_54510033del, NC_000001.10:g.54510027_54510033del, NC_000001.10:g.54510028_54510033del, NC_000001.10:g.54510029_54510033del, NC_000001.10:g.54510030_54510033del, NC_000001.10:g.54510031_54510033del, NC_000001.10:g.54510032_54510033del, NC_000001.10:g.54510033del, NC_000001.10:g.54510033dup, NC_000001.10:g.54510032_54510033dup, NC_000001.10:g.54510031_54510033dup, NC_000001.10:g.54510030_54510033dup, NC_000001.10:g.54510029_54510033dup, NC_000001.10:g.54510028_54510033dup, NC_000001.10:g.54510027_54510033dup, NC_000001.10:g.54510026_54510033dup, NC_000001.10:g.54510025_54510033dup, NC_000001.10:g.54510024_54510033dup, NC_000001.10:g.54510023_54510033dup, NC_000001.10:g.54510022_54510033dup, NC_000001.10:g.54510019_54510033dup
4.
rs1490844576 has merged into rs76749666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:54034127
(GRCh38)
1:54499800
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.33147/1660
(1000Genomes)
- HGVS:
NC_000001.11:g.54034127_54034140del, NC_000001.11:g.54034131_54034140del, NC_000001.11:g.54034132_54034140del, NC_000001.11:g.54034133_54034140del, NC_000001.11:g.54034134_54034140del, NC_000001.11:g.54034135_54034140del, NC_000001.11:g.54034136_54034140del, NC_000001.11:g.54034137_54034140del, NC_000001.11:g.54034138_54034140del, NC_000001.11:g.54034139_54034140del, NC_000001.11:g.54034140del, NC_000001.11:g.54034140dup, NC_000001.11:g.54034139_54034140dup, NC_000001.11:g.54034138_54034140dup, NC_000001.11:g.54034137_54034140dup, NC_000001.11:g.54034136_54034140dup, NC_000001.11:g.54034135_54034140dup, NC_000001.11:g.54034133_54034140dup, NC_000001.10:g.54499800_54499813del, NC_000001.10:g.54499804_54499813del, NC_000001.10:g.54499805_54499813del, NC_000001.10:g.54499806_54499813del, NC_000001.10:g.54499807_54499813del, NC_000001.10:g.54499808_54499813del, NC_000001.10:g.54499809_54499813del, NC_000001.10:g.54499810_54499813del, NC_000001.10:g.54499811_54499813del, NC_000001.10:g.54499812_54499813del, NC_000001.10:g.54499813del, NC_000001.10:g.54499813dup, NC_000001.10:g.54499812_54499813dup, NC_000001.10:g.54499811_54499813dup, NC_000001.10:g.54499810_54499813dup, NC_000001.10:g.54499809_54499813dup, NC_000001.10:g.54499808_54499813dup, NC_000001.10:g.54499806_54499813dup
5.
rs1490771859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:54042271
(GRCh38)
1:54507944
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54042270:T:G
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
6.
rs1490700051 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CGGCAAGCTCCCA
[Show Flanks]
- Chromosome:
- 1:54052711
(GRCh38)
1:54518385
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54052711::CGGCAAGCTCCCA
- Gene:
- TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGGCAAGCTCCCA=0.000447/2
(
ALFA)
CGGCAAGCTCCCA=0.000007/1
(GnomAD)
CGGCAAGCTCCCA=0.000446/2
(Estonian)
- HGVS:
9.
rs1490274988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:54042911
(GRCh38)
1:54508584
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54042910:G:A
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490076068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:54044125
(GRCh38)
1:54509798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54044124:G:A,NC_000001.11:54044124:G:C
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1489971845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:54052789
(GRCh38)
1:54518462
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54052788:C:A
- Gene:
- TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489912742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54034081
(GRCh38)
1:54499754
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54034080:T:C
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
13.
rs1489884475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:54053604
(GRCh38)
1:54519277
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54053603:G:A
- Gene:
- TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489867059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54035142
(GRCh38)
1:54500815
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54035141:T:C
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
15.
rs1489817736 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:54026857
(GRCh38)
1:54492530
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54026856:AA:
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.54026857_54026858del, NC_000001.10:g.54492530_54492531del, NM_004872.5:c.*5292_*5293del, NM_004872.4:c.*5292_*5293del, NM_001305043.2:c.*5292_*5293del, NM_001305043.1:c.*5292_*5293del, NM_001305050.2:c.*5292_*5293del, NM_001305050.1:c.*5292_*5293del, NM_001305049.1:c.*5292_*5293del, NM_001305051.1:c.*5292_*5293del, NM_001305052.1:c.*5292_*5293del
16.
rs1489807473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:54033418
(GRCh38)
1:54499091
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54033417:T:C
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000071/2
(TOMMO)
- HGVS:
17.
rs1489373852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:54044394
(GRCh38)
1:54510067
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54044393:T:A,NC_000001.11:54044393:T:G
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489357170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:54048211
(GRCh38)
1:54513884
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54048210:C:T
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489269323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:54052269
(GRCh38)
1:54517942
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54052268:A:G
- Gene:
- TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489225124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:54036852
(GRCh38)
1:54502525
(GRCh37)
- Canonical SPDI:
- NC_000001.11:54036851:A:G
- Gene:
- TMEM59 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: