Links from Gene
Items: 1 to 20 of 5485
1.
rs1491570034 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGA,GTGC,GTGTAC,GTGTATAG,GTGTATATATATATATATATATATAC
[Show Flanks]
- Chromosome:
- 14:58404100
(GRCh38)
14:58870819
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404100::GTGA,NC_000014.9:58404100::GTGC,NC_000014.9:58404100::GTGTAC,NC_000014.9:58404100::GTGTATAG,NC_000014.9:58404100::GTGTATATATATATATATATATATAC
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGC=0./0
(
ALFA)
GTGTATATATATATATATATATATAC=0.00011/1
(TOMMO)
- HGVS:
2.
rs1491246989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 14:58404113
(GRCh38)
14:58870831
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000014.9:58404099:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.58404101AT[6], NC_000014.9:g.58404101AT[7], NC_000014.9:g.58404101AT[8], NC_000014.9:g.58404101AT[9], NC_000014.9:g.58404101AT[11], NC_000014.9:g.58404101AT[12], NC_000014.9:g.58404101AT[13], NC_000014.9:g.58404101AT[14], NC_000014.9:g.58404101AT[15], NC_000014.9:g.58404101AT[16], NC_000014.9:g.58404101AT[17], NC_000014.9:g.58404101AT[22], NC_000014.8:g.58870819AT[6], NC_000014.8:g.58870819AT[7], NC_000014.8:g.58870819AT[8], NC_000014.8:g.58870819AT[9], NC_000014.8:g.58870819AT[11], NC_000014.8:g.58870819AT[12], NC_000014.8:g.58870819AT[13], NC_000014.8:g.58870819AT[14], NC_000014.8:g.58870819AT[15], NC_000014.8:g.58870819AT[16], NC_000014.8:g.58870819AT[17], NC_000014.8:g.58870819AT[22]
3.
rs1491032814 has merged into rs10656955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:58414020
(GRCh38)
14:58880738
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58414008:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000014.9:g.58414020_58414036del, NC_000014.9:g.58414021_58414036del, NC_000014.9:g.58414022_58414036del, NC_000014.9:g.58414023_58414036del, NC_000014.9:g.58414024_58414036del, NC_000014.9:g.58414025_58414036del, NC_000014.9:g.58414026_58414036del, NC_000014.9:g.58414027_58414036del, NC_000014.9:g.58414028_58414036del, NC_000014.9:g.58414029_58414036del, NC_000014.9:g.58414030_58414036del, NC_000014.9:g.58414031_58414036del, NC_000014.9:g.58414032_58414036del, NC_000014.9:g.58414033_58414036del, NC_000014.9:g.58414034_58414036del, NC_000014.9:g.58414035_58414036del, NC_000014.9:g.58414036del, NC_000014.9:g.58414036dup, NC_000014.9:g.58414035_58414036dup, NC_000014.9:g.58414034_58414036dup, NC_000014.9:g.58414033_58414036dup, NC_000014.9:g.58414032_58414036dup, NC_000014.9:g.58414031_58414036dup, NC_000014.9:g.58414030_58414036dup, NC_000014.9:g.58414029_58414036dup, NC_000014.9:g.58414028_58414036dup, NC_000014.9:g.58414027_58414036dup, NC_000014.9:g.58414026_58414036dup, NC_000014.9:g.58414025_58414036dup, NC_000014.9:g.58414009_58414036A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.58880738_58880754del, NC_000014.8:g.58880739_58880754del, NC_000014.8:g.58880740_58880754del, NC_000014.8:g.58880741_58880754del, NC_000014.8:g.58880742_58880754del, NC_000014.8:g.58880743_58880754del, NC_000014.8:g.58880744_58880754del, NC_000014.8:g.58880745_58880754del, NC_000014.8:g.58880746_58880754del, NC_000014.8:g.58880747_58880754del, NC_000014.8:g.58880748_58880754del, NC_000014.8:g.58880749_58880754del, NC_000014.8:g.58880750_58880754del, NC_000014.8:g.58880751_58880754del, NC_000014.8:g.58880752_58880754del, NC_000014.8:g.58880753_58880754del, NC_000014.8:g.58880754del, NC_000014.8:g.58880754dup, NC_000014.8:g.58880753_58880754dup, NC_000014.8:g.58880752_58880754dup, NC_000014.8:g.58880751_58880754dup, NC_000014.8:g.58880750_58880754dup, NC_000014.8:g.58880749_58880754dup, NC_000014.8:g.58880748_58880754dup, NC_000014.8:g.58880747_58880754dup, NC_000014.8:g.58880746_58880754dup, NC_000014.8:g.58880745_58880754dup, NC_000014.8:g.58880744_58880754dup, NC_000014.8:g.58880743_58880754dup, NC_000014.8:g.58880727_58880754A[32]GAATAAAAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1490846783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58412832
(GRCh38)
14:58879550
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58412831:T:C
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490761887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:58404319
(GRCh38)
14:58871037
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404318:C:T
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
6.
rs1490567206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:58404034
(GRCh38)
14:58870752
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404033:G:A,NC_000014.9:58404033:G:T
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490500094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:58406318
(GRCh38)
14:58873036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58406317:T:A
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490446585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:58395869
(GRCh38)
14:58862587
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58395868:A:C
- Gene:
- TOMM20L (Varview), TOMM20L-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000344/1
(KOREAN)
C=0.000549/1
(Korea1K)
- HGVS:
9.
rs1490075498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58403645
(GRCh38)
14:58870363
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58403644:T:C
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489946535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58395429
(GRCh38)
14:58862147
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58395428:G:A
- Gene:
- TOMM20L (Varview), TOMM20L-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489568243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:58399369
(GRCh38)
14:58866087
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58399368:C:T
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489558187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58406760
(GRCh38)
14:58873478
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58406759:G:A
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1489467051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:58404131
(GRCh38)
14:58870849
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404130:T:A,NC_000014.9:58404130:T:C
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.0002/2
(TOMMO)
A=0.00064/3
(GnomAD)
- HGVS:
14.
rs1489446903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58405598
(GRCh38)
14:58872316
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58405597:G:A
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
A=0.000071/1
(TOMMO)
A=0.001027/3
(KOREAN)
A=0.001638/3
(Korea1K)
- HGVS:
15.
rs1488784525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58410165
(GRCh38)
14:58876883
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58410164:G:A
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1488651575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:58399347
(GRCh38)
14:58866065
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58399346:C:T
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488607104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:58411423
(GRCh38)
14:58878141
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58411422:G:A,NC_000014.9:58411422:G:C
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488078670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:58404297
(GRCh38)
14:58871015
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58404296:T:G
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1488034497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:58399908
(GRCh38)
14:58866626
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58399907:A:G
- Gene:
- TOMM20L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1488000567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58408514
(GRCh38)
14:58875232
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58408513:T:C
- Gene:
- TIMM9 (Varview), TOMM20L (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.58408514T>C, NC_000014.8:g.58875232T>C, NM_012460.4:c.*520A>G, NR_130750.2:n.1168A>G, NR_130750.1:n.1251A>G, NM_001304485.2:c.*520A>G, NM_001304485.1:c.*520A>G, NM_001304487.2:c.*520A>G, XM_047431264.1:c.*520A>G, NM_001304488.1:c.*520A>G, NM_001304489.1:c.*520A>G, NM_001304490.1:c.*520A>G, NM_001304486.1:c.*520A>G, NR_130751.1:n.941A>G, NR_130752.1:n.940A>G, NR_130753.1:n.932A>G, NM_001304491.1:c.*520A>G