Links from Gene
Items: 1 to 20 of 1723
1.
rs1491523060 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:124514817
(GRCh38)
12:124999363
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124514816:CA:
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02715/322
(
ALFA)
-=0.00255/83
(GnomAD)
-=0.00486/137
(TOMMO)
- HGVS:
2.
rs1491479505 has merged into rs55977979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:124514828
(GRCh38)
12:124999374
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:124514817:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.1342/672
(1000Genomes)
- HGVS:
NC_000012.12:g.124514828_124514838del, NC_000012.12:g.124514832_124514838del, NC_000012.12:g.124514833_124514838del, NC_000012.12:g.124514834_124514838del, NC_000012.12:g.124514835_124514838del, NC_000012.12:g.124514836_124514838del, NC_000012.12:g.124514837_124514838del, NC_000012.12:g.124514838del, NC_000012.12:g.124514838dup, NC_000012.12:g.124514837_124514838dup, NC_000012.12:g.124514836_124514838dup, NC_000012.12:g.124514835_124514838dup, NC_000012.12:g.124514834_124514838dup, NC_000012.11:g.124999374_124999384del, NC_000012.11:g.124999378_124999384del, NC_000012.11:g.124999379_124999384del, NC_000012.11:g.124999380_124999384del, NC_000012.11:g.124999381_124999384del, NC_000012.11:g.124999382_124999384del, NC_000012.11:g.124999383_124999384del, NC_000012.11:g.124999384del, NC_000012.11:g.124999384dup, NC_000012.11:g.124999383_124999384dup, NC_000012.11:g.124999382_124999384dup, NC_000012.11:g.124999381_124999384dup, NC_000012.11:g.124999380_124999384dup, NG_022928.2:g.57637_57647del, NG_022928.2:g.57641_57647del, NG_022928.2:g.57642_57647del, NG_022928.2:g.57643_57647del, NG_022928.2:g.57644_57647del, NG_022928.2:g.57645_57647del, NG_022928.2:g.57646_57647del, NG_022928.2:g.57647del, NG_022928.2:g.57647dup, NG_022928.2:g.57646_57647dup, NG_022928.2:g.57645_57647dup, NG_022928.2:g.57644_57647dup, NG_022928.2:g.57643_57647dup
3.
rs1491021927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:124515649
(GRCh38)
12:125000196
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124515649:T:TT
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490331671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124510582
(GRCh38)
12:124995128
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124510581:G:A
- Gene:
- NCOR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489557810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATC>-
[Show Flanks]
- Chromosome:
- 12:124516218
(GRCh38)
12:125000764
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124516216:CATC:C
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489454030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124512203
(GRCh38)
12:124996749
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124512202:C:T
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
7.
rs1488910499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:124512360
(GRCh38)
12:124996906
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124512359:GG:G
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488678313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124515827
(GRCh38)
12:125000373
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124515826:C:T
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
9.
rs1488401879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:124513610
(GRCh38)
12:124998156
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124513609:C:A
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,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.
rs1487007994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:124514197
(GRCh38)
12:124998743
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124514196:C:A
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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:
11.
rs1486359144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:124515390
(GRCh38)
12:124999936
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124515389:A:G
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
12.
rs1486121228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124511835
(GRCh38)
12:124996381
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124511834:G:A
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485878224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124514575
(GRCh38)
12:124999121
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124514574:G:A
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
14.
rs1485641996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:124517256
(GRCh38)
12:125001802
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124517255:C:A
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485227966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:124517210
(GRCh38)
12:125001756
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124517209:CCC:CC
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484981448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124517054
(GRCh38)
12:125001600
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124517053:C:T
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_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.
rs1484857607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:124513070
(GRCh38)
12:124997616
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124513069:G:C
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1484230673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:124512583
(GRCh38)
12:124997129
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124512582:A:G
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant,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.
rs1484071210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124513486
(GRCh38)
12:124998032
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124513485:C:T
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
20.
rs1483948608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:124516061
(GRCh38)
12:125000607
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124516060:C:A,NC_000012.12:124516060:C:T
- Gene:
- NCOR2 (Varview), LOC105370047 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS: