Links from Gene
Items: 1 to 20 of 1000
1.
rs1491472950 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:235117476
(GRCh38)
1:235280792
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235117476::C
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00011/7
(GnomAD)
- HGVS:
2.
rs1491445705 has merged into rs11307835 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 1:235117488
(GRCh38)
1:235280803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235117475:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:235117475:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:235117475:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:235117475:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3207/177
(NorthernSweden)
- HGVS:
3.
rs1491099863 has merged into rs752792267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:235120883
(GRCh38)
1:235284198
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:235120869:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.235120883_235120885del, NC_000001.11:g.235120884_235120885del, NC_000001.11:g.235120885del, NC_000001.11:g.235120885dup, NC_000001.11:g.235120884_235120885dup, NC_000001.11:g.235120883_235120885dup, NC_000001.11:g.235120882_235120885dup, NC_000001.11:g.235120881_235120885dup, NC_000001.10:g.235284198_235284200del, NC_000001.10:g.235284199_235284200del, NC_000001.10:g.235284200del, NC_000001.10:g.235284200dup, NC_000001.10:g.235284199_235284200dup, NC_000001.10:g.235284198_235284200dup, NC_000001.10:g.235284197_235284200dup, NC_000001.10:g.235284196_235284200dup
4.
rs1491048917 has merged into rs67573955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:235114443
(GRCh38)
1:235277758
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:235114439:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.235114443_235114456del, NC_000001.11:g.235114446_235114456del, NC_000001.11:g.235114447_235114456del, NC_000001.11:g.235114448_235114456del, NC_000001.11:g.235114449_235114456del, NC_000001.11:g.235114450_235114456del, NC_000001.11:g.235114451_235114456del, NC_000001.11:g.235114452_235114456del, NC_000001.11:g.235114453_235114456del, NC_000001.11:g.235114454_235114456del, NC_000001.11:g.235114455_235114456del, NC_000001.11:g.235114456del, NC_000001.11:g.235114456dup, NC_000001.11:g.235114455_235114456dup, NC_000001.11:g.235114454_235114456dup, NC_000001.11:g.235114453_235114456dup, NC_000001.11:g.235114450_235114456dup, NC_000001.10:g.235277758_235277771del, NC_000001.10:g.235277761_235277771del, NC_000001.10:g.235277762_235277771del, NC_000001.10:g.235277763_235277771del, NC_000001.10:g.235277764_235277771del, NC_000001.10:g.235277765_235277771del, NC_000001.10:g.235277766_235277771del, NC_000001.10:g.235277767_235277771del, NC_000001.10:g.235277768_235277771del, NC_000001.10:g.235277769_235277771del, NC_000001.10:g.235277770_235277771del, NC_000001.10:g.235277771del, NC_000001.10:g.235277771dup, NC_000001.10:g.235277770_235277771dup, NC_000001.10:g.235277769_235277771dup, NC_000001.10:g.235277768_235277771dup, NC_000001.10:g.235277765_235277771dup
5.
rs1490954017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:235117084
(GRCh38)
1:235280399
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235117083:G:A
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490853739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:235128954
(GRCh38)
1:235292269
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235128953:C:G
- Gene:
- TOMM20 (Varview), SNORA14B (Varview), LOC105379283 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490835453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:235110740
(GRCh38)
1:235274055
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235110739:C:G
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490789540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:235116100
(GRCh38)
1:235279415
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235116099:T:C,NC_000001.11:235116099:T:G
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000132/2
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
9.
rs1490756401 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:235124891
(GRCh38)
1:235288206
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235124890:T:
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490660638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:235110293
(GRCh38)
1:235273608
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235110292:G:A
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490648975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:235114914
(GRCh38)
1:235278229
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235114913:G:C
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490623878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:235116703
(GRCh38)
1:235280018
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235116702:G:T
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000198/3
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
13.
rs1490501775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:235130612
(GRCh38)
1:235293927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235130611:G:A
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
14.
rs1490228056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:235116713
(GRCh38)
1:235280028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235116712:A:C
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000546/1
(Korea1K)
C=0.001027/3
(KOREAN)
- HGVS:
15.
rs1490178320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:235129768
(GRCh38)
1:235293083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235129767:A:G
- Gene:
- TOMM20 (Varview), SNORA14B (Varview), LOC105379283 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490176377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:235129059
(GRCh38)
1:235292374
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235129058:T:A
- Gene:
- TOMM20 (Varview), SNORA14B (Varview), LOC105379283 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000671/3
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00067/3
(Estonian)
- HGVS:
17.
rs1490015643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:235129389
(GRCh38)
1:235292704
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235129388:G:A
- Gene:
- TOMM20 (Varview), SNORA14B (Varview), LOC105379283 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
18.
rs1490011020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAT>-
[Show Flanks]
- Chromosome:
- 1:235129921
(GRCh38)
1:235293236
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235129916:TAATAAT:TAAT
- Gene:
- TOMM20 (Varview), SNORA14B (Varview), LOC105379283 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAT=0.000142/2
(
ALFA)
-=0.000071/10
(GnomAD)
-=0.000094/25
(TOPMED)
- HGVS:
19.
rs1489842719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:235109849
(GRCh38)
1:235273164
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235109848:G:A
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489608661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:235122955
(GRCh38)
1:235286270
(GRCh37)
- Canonical SPDI:
- NC_000001.11:235122954:T:C
- Gene:
- TOMM20 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS: