Links from Gene
Items: 1 to 20 of 1000
2.
rs1491446581 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:21797822
(GRCh38)
16:21809143
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21797820:TAT:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000052/13
(GnomAD_exomes)
-=0.000076/20
(TOPMED)
-=0.000077/9
(ExAC)
-=0.000354/6
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
3.
rs1491318589 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:21797335
(GRCh38)
16:21808656
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21797334:CT:
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00006/6
(GnomAD)
-=0.00047/3
(1000Genomes)
- HGVS:
4.
rs1491277709 has merged into rs71224337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:21797874
(GRCh38)
16:21809195
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:21797867:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0.000718/15
(
ALFA)
-=0.000004/1
(TOPMED)
AA=0.12766/492
(ALSPAC)
AA=0.145361/539
(TWINSUK)
AA=0.2/8
(GENOME_DK)
- HGVS:
NC_000016.10:g.21797874_21797879del, NC_000016.10:g.21797877_21797879del, NC_000016.10:g.21797878_21797879del, NC_000016.10:g.21797879del, NC_000016.10:g.21797879dup, NC_000016.10:g.21797878_21797879dup, NC_000016.10:g.21797877_21797879dup, NC_000016.10:g.21797876_21797879dup, NC_000016.9:g.21809195_21809200del, NC_000016.9:g.21809198_21809200del, NC_000016.9:g.21809199_21809200del, NC_000016.9:g.21809200del, NC_000016.9:g.21809200dup, NC_000016.9:g.21809199_21809200dup, NC_000016.9:g.21809198_21809200dup, NC_000016.9:g.21809197_21809200dup, NW_017852933.1:g.1306908_1306913del, NW_017852933.1:g.1306911_1306913del, NW_017852933.1:g.1306912_1306913del, NW_017852933.1:g.1306913del, NW_017852933.1:g.1306913dup, NW_017852933.1:g.1306912_1306913dup, NW_017852933.1:g.1306911_1306913dup, NW_017852933.1:g.1306910_1306913dup
5.
rs1491211999 has merged into rs3053956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:21797346
(GRCh38)
16:21808667
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21797335:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.3083/1544
(1000Genomes)
- HGVS:
NC_000016.10:g.21797346_21797355del, NC_000016.10:g.21797347_21797355del, NC_000016.10:g.21797348_21797355del, NC_000016.10:g.21797349_21797355del, NC_000016.10:g.21797350_21797355del, NC_000016.10:g.21797351_21797355del, NC_000016.10:g.21797352_21797355del, NC_000016.10:g.21797353_21797355del, NC_000016.10:g.21797354_21797355del, NC_000016.10:g.21797355del, NC_000016.10:g.21797355dup, NC_000016.10:g.21797354_21797355dup, NC_000016.10:g.21797353_21797355dup, NC_000016.10:g.21797352_21797355dup, NC_000016.10:g.21797351_21797355dup, NC_000016.10:g.21797350_21797355dup, NC_000016.9:g.21808667_21808676del, NC_000016.9:g.21808668_21808676del, NC_000016.9:g.21808669_21808676del, NC_000016.9:g.21808670_21808676del, NC_000016.9:g.21808671_21808676del, NC_000016.9:g.21808672_21808676del, NC_000016.9:g.21808673_21808676del, NC_000016.9:g.21808674_21808676del, NC_000016.9:g.21808675_21808676del, NC_000016.9:g.21808676del, NC_000016.9:g.21808676dup, NC_000016.9:g.21808675_21808676dup, NC_000016.9:g.21808674_21808676dup, NC_000016.9:g.21808673_21808676dup, NC_000016.9:g.21808672_21808676dup, NC_000016.9:g.21808671_21808676dup, NW_017852933.1:g.1307444dup, NW_017852933.1:g.1307436_1307444del, NW_017852933.1:g.1307437_1307444del, NW_017852933.1:g.1307438_1307444del, NW_017852933.1:g.1307439_1307444del, NW_017852933.1:g.1307440_1307444del, NW_017852933.1:g.1307441_1307444del, NW_017852933.1:g.1307442_1307444del, NW_017852933.1:g.1307443_1307444del, NW_017852933.1:g.1307444del, NW_017852933.1:g.1307443_1307444dup, NW_017852933.1:g.1307442_1307444dup, NW_017852933.1:g.1307441_1307444dup, NW_017852933.1:g.1307440_1307444dup, NW_017852933.1:g.1307439_1307444dup, NW_017852933.1:g.1307438_1307444dup
6.
rs1491059839 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:21810666
(GRCh38)
16:21821987
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21810665:AT:
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
7.
rs1490993737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:21805893
(GRCh38)
16:21817214
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21805892:G:A,NC_000016.10:21805892:G:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
8.
rs1490801138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:21804466
(GRCh38)
16:21815787
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21804465:A:G
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490733551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:21800699
(GRCh38)
16:21812020
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21800698:C:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000012/3
(GnomAD_exomes)
T=0.0001/14
(GnomAD)
T=0.000102/27
(TOPMED)
- HGVS:
11.
rs1490654977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:21815482
(GRCh38)
16:21826803
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21815481:G:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490503061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:21796694
(GRCh38)
16:21808015
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21796693:A:C
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490270766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:21808343
(GRCh38)
16:21819664
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21808342:A:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
15.
rs1489656967 has merged into rs1171057482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:21803071
(GRCh38)
16:21814392
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:21803060:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.21803071_21803080del, NC_000016.10:g.21803074_21803080del, NC_000016.10:g.21803076_21803080del, NC_000016.10:g.21803077_21803080del, NC_000016.10:g.21803078_21803080del, NC_000016.10:g.21803079_21803080del, NC_000016.10:g.21803080del, NC_000016.10:g.21803080dup, NC_000016.10:g.21803079_21803080dup, NC_000016.10:g.21803078_21803080dup, NC_000016.10:g.21803077_21803080dup, NC_000016.10:g.21803076_21803080dup, NC_000016.10:g.21803074_21803080dup, NC_000016.9:g.21814392_21814401del, NC_000016.9:g.21814395_21814401del, NC_000016.9:g.21814397_21814401del, NC_000016.9:g.21814398_21814401del, NC_000016.9:g.21814399_21814401del, NC_000016.9:g.21814400_21814401del, NC_000016.9:g.21814401del, NC_000016.9:g.21814401dup, NC_000016.9:g.21814400_21814401dup, NC_000016.9:g.21814399_21814401dup, NC_000016.9:g.21814398_21814401dup, NC_000016.9:g.21814397_21814401dup, NC_000016.9:g.21814395_21814401dup, NW_017852933.1:g.1301711_1301720del, NW_017852933.1:g.1301714_1301720del, NW_017852933.1:g.1301716_1301720del, NW_017852933.1:g.1301717_1301720del, NW_017852933.1:g.1301718_1301720del, NW_017852933.1:g.1301719_1301720del, NW_017852933.1:g.1301720del, NW_017852933.1:g.1301720dup, NW_017852933.1:g.1301719_1301720dup, NW_017852933.1:g.1301718_1301720dup, NW_017852933.1:g.1301717_1301720dup, NW_017852933.1:g.1301716_1301720dup, NW_017852933.1:g.1301714_1301720dup
16.
rs1489626847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:21802386
(GRCh38)
16:21813707
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21802385:A:G
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489600131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:21798115
(GRCh38)
16:21809436
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21798114:G:A
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00014/2
(TOMMO)
A=0.00055/1
(Korea1K)
A=0.0024/7
(KOREAN)
- HGVS:
18.
rs1489595992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:21820225
(GRCh38)
16:21831546
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21820224:A:G
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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:
19.
rs1489572632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:21797634
(GRCh38)
16:21808955
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21797633:C:T
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489265814 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:21802811
(GRCh38)
16:21814132
(GRCh37)
- Canonical SPDI:
- NC_000016.10:21802807:ATATA:ATA
- Gene:
- RRN3P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: