Links from Gene
Items: 1 to 20 of 1000
4.
rs1491466389 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 3:44620379
(GRCh38)
3:44661871
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44620378:TT:
- Gene:
- ZNF197-AS1 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000043/5
(GnomAD)
- HGVS:
5.
rs1491396253 has merged into rs57890020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:44623248
(GRCh38)
3:44664740
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:44623234:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF197 (Varview), ZNF197-AS1 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000003.12:g.44623248_44623254del, NC_000003.12:g.44623249_44623254del, NC_000003.12:g.44623250_44623254del, NC_000003.12:g.44623251_44623254del, NC_000003.12:g.44623252_44623254del, NC_000003.12:g.44623253_44623254del, NC_000003.12:g.44623254del, NC_000003.12:g.44623254dup, NC_000003.12:g.44623253_44623254dup, NC_000003.12:g.44623252_44623254dup, NC_000003.12:g.44623251_44623254dup, NC_000003.12:g.44623250_44623254dup, NC_000003.12:g.44623249_44623254dup, NC_000003.12:g.44623248_44623254dup, NC_000003.12:g.44623247_44623254dup, NC_000003.12:g.44623246_44623254dup, NC_000003.12:g.44623243_44623254dup, NC_000003.12:g.44623242_44623254dup, NC_000003.12:g.44623240_44623254dup, NC_000003.11:g.44664740_44664746del, NC_000003.11:g.44664741_44664746del, NC_000003.11:g.44664742_44664746del, NC_000003.11:g.44664743_44664746del, NC_000003.11:g.44664744_44664746del, NC_000003.11:g.44664745_44664746del, NC_000003.11:g.44664746del, NC_000003.11:g.44664746dup, NC_000003.11:g.44664745_44664746dup, NC_000003.11:g.44664744_44664746dup, NC_000003.11:g.44664743_44664746dup, NC_000003.11:g.44664742_44664746dup, NC_000003.11:g.44664741_44664746dup, NC_000003.11:g.44664740_44664746dup, NC_000003.11:g.44664739_44664746dup, NC_000003.11:g.44664738_44664746dup, NC_000003.11:g.44664735_44664746dup, NC_000003.11:g.44664734_44664746dup, NC_000003.11:g.44664732_44664746dup, NW_009646197.1:g.148602_148608del, NW_009646197.1:g.148603_148608del, NW_009646197.1:g.148604_148608del, NW_009646197.1:g.148605_148608del, NW_009646197.1:g.148606_148608del, NW_009646197.1:g.148607_148608del, NW_009646197.1:g.148608del, NW_009646197.1:g.148608dup, NW_009646197.1:g.148607_148608dup, NW_009646197.1:g.148606_148608dup, NW_009646197.1:g.148605_148608dup, NW_009646197.1:g.148604_148608dup, NW_009646197.1:g.148603_148608dup, NW_009646197.1:g.148602_148608dup, NW_009646197.1:g.148601_148608dup, NW_009646197.1:g.148600_148608dup, NW_009646197.1:g.148597_148608dup, NW_009646197.1:g.148596_148608dup, NW_009646197.1:g.148594_148608dup
6.
rs1491307819 has merged into rs4016043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 3:44582925
(GRCh38)
3:44624417
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGT=0.15/6
(GENOME_DK)
GTGTGTGTGTGT=0.3975/1532
(ALSPAC)
- HGVS:
NC_000003.12:g.44582909TG[8], NC_000003.12:g.44582909TG[9], NC_000003.12:g.44582909TG[10], NC_000003.12:g.44582909TG[11], NC_000003.12:g.44582909TG[12], NC_000003.12:g.44582909TG[13], NC_000003.12:g.44582909TG[14], NC_000003.12:g.44582909TG[15], NC_000003.12:g.44582909TG[16], NC_000003.12:g.44582909TG[17], NC_000003.12:g.44582909TG[18], NC_000003.12:g.44582909TG[20], NC_000003.12:g.44582909TG[21], NC_000003.12:g.44582909TG[22], NC_000003.12:g.44582909TG[23], NC_000003.12:g.44582909TG[24], NC_000003.12:g.44582909TG[25], NC_000003.12:g.44582909TG[26], NC_000003.11:g.44624401TG[8], NC_000003.11:g.44624401TG[9], NC_000003.11:g.44624401TG[10], NC_000003.11:g.44624401TG[11], NC_000003.11:g.44624401TG[12], NC_000003.11:g.44624401TG[13], NC_000003.11:g.44624401TG[14], NC_000003.11:g.44624401TG[15], NC_000003.11:g.44624401TG[16], NC_000003.11:g.44624401TG[17], NC_000003.11:g.44624401TG[18], NC_000003.11:g.44624401TG[20], NC_000003.11:g.44624401TG[21], NC_000003.11:g.44624401TG[22], NC_000003.11:g.44624401TG[23], NC_000003.11:g.44624401TG[24], NC_000003.11:g.44624401TG[25], NC_000003.11:g.44624401TG[26], NG_054906.1:g.3061TG[8], NG_054906.1:g.3061TG[9], NG_054906.1:g.3061TG[10], NG_054906.1:g.3061TG[11], NG_054906.1:g.3061TG[12], NG_054906.1:g.3061TG[13], NG_054906.1:g.3061TG[14], NG_054906.1:g.3061TG[15], NG_054906.1:g.3061TG[16], NG_054906.1:g.3061TG[17], NG_054906.1:g.3061TG[18], NG_054906.1:g.3061TG[20], NG_054906.1:g.3061TG[21], NG_054906.1:g.3061TG[22], NG_054906.1:g.3061TG[23], NG_054906.1:g.3061TG[24], NG_054906.1:g.3061TG[25], NG_054906.1:g.3061TG[26], NW_009646197.1:g.108263TG[8], NW_009646197.1:g.108263TG[9], NW_009646197.1:g.108263TG[10], NW_009646197.1:g.108263TG[11], NW_009646197.1:g.108263TG[12], NW_009646197.1:g.108263TG[13], NW_009646197.1:g.108263TG[14], NW_009646197.1:g.108263TG[15], NW_009646197.1:g.108263TG[16], NW_009646197.1:g.108263TG[17], NW_009646197.1:g.108263TG[18], NW_009646197.1:g.108263TG[20], NW_009646197.1:g.108263TG[21], NW_009646197.1:g.108263TG[22], NW_009646197.1:g.108263TG[23], NW_009646197.1:g.108263TG[24], NW_009646197.1:g.108263TG[25], NW_009646197.1:g.108263TG[26]
10.
rs1491099339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 3:44631692
(GRCh38)
3:44673185
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44631692:A:ATA
- Gene:
- ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
AT=0.001694/235
(GnomAD)
AT=0.001874/12
(1000Genomes)
- HGVS:
11.
rs1491074861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:44610199
(GRCh38)
3:44651691
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44610197:AGA:A
- Gene:
- ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490967121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:44639949
(GRCh38)
3:44681441
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44639948:G:T
- Gene:
- ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (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:
13.
rs1490939539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44641122
(GRCh38)
3:44682614
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44641121:A:G
- Gene:
- ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (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:
14.
rs1490842577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:44629880
(GRCh38)
3:44671372
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44629879:T:C
- Gene:
- ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490824236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:44614804
(GRCh38)
3:44656296
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44614803:T:C,NC_000003.12:44614803:T:G
- Gene:
- ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490793578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 3:44613816
(GRCh38)
3:44655308
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44613815:T:A,NC_000003.12:44613815:T:C
- Gene:
- ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490750849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44595803
(GRCh38)
3:44637295
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44595802:A:G
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490742599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:44648464
(GRCh38)
3:44689956
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44648463:G:A
- Gene:
- ZNF35 (Varview), ZNF197 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_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:
NC_000003.12:g.44648464G>A, NC_000003.11:g.44689956G>A, NW_009646197.1:g.173818G>A, NM_006991.5:c.*4244G>A, NM_006991.4:c.*4244G>A, NM_001024855.3:c.*1939G>A, NM_001024855.2:c.*1939G>A, NM_001024855.1:c.*1939G>A, NM_001323293.2:c.*4244G>A, NM_001323293.1:c.*4244G>A, NM_001323296.2:c.*4244G>A, NM_001323296.1:c.*4244G>A, NR_147691.2:n.3110G>A, NR_147691.1:n.3224G>A, NR_136582.2:n.3065G>A, NM_001351735.2:c.*1939G>A, NM_001351735.1:c.*1939G>A, NM_001351734.2:c.*1939G>A, NM_001351734.1:c.*1939G>A, NM_001323294.2:c.*1939G>A, NM_001323294.1:c.*1939G>A, NR_147692.2:n.7701G>A, NR_147692.1:n.7815G>A, NM_001323295.2:c.*4244G>A, NM_001323295.1:c.*4244G>A, NM_001351733.2:c.*4244G>A, NM_001351733.1:c.*4244G>A, NM_001351732.2:c.*4244G>A, NM_001351732.1:c.*4244G>A
19.
rs1490724042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:44609035
(GRCh38)
3:44650527
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44609034:C:T
- Gene:
- ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000035/1
(TOMMO)
T=0.000036/5
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
20.
rs1490660511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:44586796
(GRCh38)
3:44628288
(GRCh37)
- Canonical SPDI:
- NC_000003.12:44586795:A:G
- Gene:
- ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: