Links from Gene
Items: 1 to 20 of 1000
1.
rs1491399763 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:9619862
(GRCh38)
19:9730539
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9619862::C
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000035/1
(TOMMO)
C=0.044191/283
(1000Genomes)
C=0.049731/5908
(GnomAD)
- HGVS:
2.
rs1491149711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTAT,CTATAT,CTCTAT,CTCTCTAT
[Show Flanks]
- Chromosome:
- 19:9622318
(GRCh38)
19:9732995
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9622318:T:TCTAT,NC_000019.10:9622318:T:TCTATAT,NC_000019.10:9622318:T:TCTCTAT,NC_000019.10:9622318:T:TCTCTCTAT
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTAT=0./0
(
ALFA)
TCTA=0.00167/1
(NorthernSweden)
TCTA=0.00394/66
(TOMMO)
- HGVS:
6.
rs1490909149 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:9612758
(GRCh38)
19:9723435
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9612758:T:TT
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490740882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9622807
(GRCh38)
19:9733483
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9622806:A:G
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490637805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:9621064
(GRCh38)
19:9731740
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9621063:G:T
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
9.
rs1490457684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9621576
(GRCh38)
19:9732252
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9621575:C:T
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490445492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:9614885
(GRCh38)
19:9725561
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9614884:C:A
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490313557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:9620313
(GRCh38)
19:9730989
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9620312:C:A,NC_000019.10:9620312:C:T
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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)
C=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1490261628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:9619846
(GRCh38)
19:9730522
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9619845:T:A,NC_000019.10:9619845:T:C
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
13.
rs1490133309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9617184
(GRCh38)
19:9727860
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9617183:A:G
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1490119031 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATT>-
[Show Flanks]
- Chromosome:
- 19:9613967
(GRCh38)
19:9724643
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9613966:ATT:
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489822749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:9620728
(GRCh38)
19:9731404
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9620727:A:C,NC_000019.10:9620727:A:G
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.00025/4
(TOMMO)
- HGVS:
16.
rs1489782543 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GAGAGA
[Show Flanks]
- Chromosome:
- 19:9608314
(GRCh38)
19:9718990
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9608307:GAGAGAGAGA:GAGAGA,NC_000019.10:9608307:GAGAGAGAGA:GAGAGAGAGAGA
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000546/1
(Korea1K)
- HGVS:
NC_000019.10:g.9608308GA[3], NC_000019.10:g.9608308GA[6], NC_000019.9:g.9718984GA[3], NC_000019.9:g.9718984GA[6], XM_006722938.4:c.*1883TC[3], XM_006722938.4:c.*1883TC[6], XM_006722938.3:c.*1883TC[3], XM_006722938.3:c.*1883TC[6], XM_006722938.2:c.*1883TC[3], XM_006722938.2:c.*1883TC[6], XM_005260150.3:c.*1883TC[3], XM_005260150.3:c.*1883TC[6], XM_005260150.2:c.*1883TC[3], XM_005260150.2:c.*1883TC[6], XM_011528434.3:c.*1883TC[3], XM_011528434.3:c.*1883TC[6], XM_011528434.2:c.*1883TC[3], XM_011528434.2:c.*1883TC[6], NM_152289.3:c.*1883TC[3], NM_152289.3:c.*1883TC[6], NM_152289.2:c.*1883TC[3], NM_152289.2:c.*1883TC[6], XM_017027479.3:c.*1883TC[3], XM_017027479.3:c.*1883TC[6], XM_017027479.2:c.*1883TC[3], XM_017027479.2:c.*1883TC[6], XM_017027479.1:c.*1883TC[3], XM_017027479.1:c.*1883TC[6], XM_024451781.2:c.*1883TC[3], XM_024451781.2:c.*1883TC[6], XM_024451781.1:c.*1883TC[3], XM_024451781.1:c.*1883TC[6], NM_001330365.2:c.*1883TC[3], NM_001330365.2:c.*1883TC[6], NM_001330365.1:c.*1883TC[3], NM_001330365.1:c.*1883TC[6], XM_047439709.1:c.*1883TC[3], XM_047439709.1:c.*1883TC[6], XM_047439708.1:c.*1883TC[3], XM_047439708.1:c.*1883TC[6], XM_047439711.1:c.*1883TC[3], XM_047439711.1:c.*1883TC[6], XM_047439710.1:c.*1883TC[3], XM_047439710.1:c.*1883TC[6], XM_047439712.1:c.*1883TC[3], XM_047439712.1:c.*1883TC[6]
17.
rs1489720248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9612467
(GRCh38)
19:9723143
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9612466:C:T
- Gene:
- ZNF561 (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:
19.
rs1489580611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:9610953
(GRCh38)
19:9721629
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9610952:A:C
- Gene:
- ZNF561 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.9610953A>C, NC_000019.9:g.9721629A>C, XM_006722938.4:c.726T>G, XM_006722938.3:c.726T>G, XM_006722938.2:c.726T>G, XM_006722938.1:c.726T>G, XM_005260150.3:c.708T>G, XM_005260150.2:c.708T>G, XM_005260150.1:c.708T>G, XM_011528434.3:c.726T>G, XM_011528434.2:c.726T>G, XM_011528434.1:c.726T>G, NM_152289.3:c.708T>G, NM_152289.2:c.708T>G, XM_017027479.3:c.501T>G, XM_017027479.2:c.501T>G, XM_017027479.1:c.501T>G, XM_024451781.2:c.501T>G, XM_024451781.1:c.501T>G, NM_001330365.2:c.501T>G, NM_001330365.1:c.501T>G, XM_047439709.1:c.708T>G, XM_047439708.1:c.726T>G, XM_047439711.1:c.627T>G, XM_047439710.1:c.627T>G, XM_047439712.1:c.387T>G
20.
rs1489567446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:9622206
(GRCh38)
19:9732882
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9622205:G:A
- Gene:
- ZNF561 (Varview), ZNF561-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: