Links from Gene
Items: 1 to 20 of 1991
1.
rs1491360678 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:228648861
(GRCh38)
1:228784609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228648861::C
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.00002/1
(GnomAD)
- HGVS:
2.
rs1491217084 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:228648862
(GRCh38)
1:228784609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228648860:TTT:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00002/1
(GnomAD)
- HGVS:
3.
rs1490955352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:228646804
(GRCh38)
1:228782551
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228646803:G:A
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
4.
rs1490418064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:228651657
(GRCh38)
1:228787404
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228651656:C:A,NC_000001.11:228651656:C:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489809780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:228646899
(GRCh38)
1:228782646
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228646898:C:G,NC_000001.11:228646898:C:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
G=0.000106/2
(TOMMO)
- HGVS:
6.
rs1488866249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:228647125
(GRCh38)
1:228782872
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228647124:A:G
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488665168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:228652747
(GRCh38)
1:228788494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228652746:A:C
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_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:
8.
rs1488336862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:228650541
(GRCh38)
1:228786288
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228650540:G:A,NC_000001.11:228650540:G:C
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000015/2
(GnomAD_exomes)
- HGVS:
9.
rs1488099199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:228651130
(GRCh38)
1:228786877
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228651129:C:A
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_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:
10.
rs1488048568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:228650182
(GRCh38)
1:228785929
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228650181:G:A
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1487926789 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:228646111
(GRCh38)
1:228781859
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228646111::A
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.01526/181
(
ALFA)
A=0.03129/189
(TOMMO)
- HGVS:
12.
rs1487864460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:228646710
(GRCh38)
1:228782457
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228646709:C:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1487113419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:228647964
(GRCh38)
1:228783711
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228647963:G:A
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486773134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:228652862
(GRCh38)
1:228788609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228652861:A:G
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
15.
rs1486720997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:228651791
(GRCh38)
1:228787538
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228651790:T:G
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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.
rs1486453491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:228646955
(GRCh38)
1:228782702
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228646954:A:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485476284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:228647196
(GRCh38)
1:228782943
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228647195:G:C,NC_000001.11:228647195:G:T
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1484662167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:228647008
(GRCh38)
1:228782755
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228647007:G:A,NC_000001.11:228647007:G:C
- Gene:
- RHOU (Varview), DUSP5P1 (Varview), RNA5S17 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1484406036 has merged into rs71180800 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCTTTCTTTCT>-,TTCT,TTCTTTCT,TTCTTTCTTTCTTTCT,TTCTTTCTTTCTTTCTTTCT,TTCTTTCTTTCTTTCTTTCTTTCT
[Show Flanks]
- Chromosome:
- 1:228648874
(GRCh38)
1:228784621
(GRCh37)
- Canonical SPDI:
- NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,NC_000001.11:228648858:TCTTTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
- Gene:
- RHOU (Varview), DUSP5P1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTTCTTTCTTTCTTTCT=0./0
(
ALFA)
-=0.2763/1368
(1000Genomes)
- HGVS:
NC_000001.11:g.228648862TTCT[3], NC_000001.11:g.228648862TTCT[4], NC_000001.11:g.228648862TTCT[5], NC_000001.11:g.228648862TTCT[7], NC_000001.11:g.228648862TTCT[8], NC_000001.11:g.228648862TTCT[9], NC_000001.10:g.228784609TTCT[3], NC_000001.10:g.228784609TTCT[4], NC_000001.10:g.228784609TTCT[5], NC_000001.10:g.228784609TTCT[7], NC_000001.10:g.228784609TTCT[8], NC_000001.10:g.228784609TTCT[9], NW_018654708.1:g.226189TTCT[3], NW_018654708.1:g.226189TTCT[4], NW_018654708.1:g.226189TTCT[5], NW_018654708.1:g.226189TTCT[7], NW_018654708.1:g.226189TTCT[8], NW_018654708.1:g.226189TTCT[9], NM_152664.1:c.*287TTCT[3], NM_152664.1:c.*287TTCT[4], NM_152664.1:c.*287TTCT[5], NM_152664.1:c.*287TTCT[7], NM_152664.1:c.*287TTCT[8], NM_152664.1:c.*287TTCT[9], XM_047443122.1:c.*287TTCT[3], XM_047443122.1:c.*287TTCT[4], XM_047443122.1:c.*287TTCT[5], XM_047443122.1:c.*287TTCT[7], XM_047443122.1:c.*287TTCT[8], XM_047443122.1:c.*287TTCT[9]