Links from Gene
Items: 1 to 20 of 1000
2.
rs1491478586 has merged into rs1382302519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGAGAGG>-,CAGAGAGGCAGAGAGG
[Show Flanks]
- Chromosome:
- 14:95125522
(GRCh38)
14:95591859
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95125506:AGAGAGGCAGAGAGGCAGAGAGG:AGAGAGGCAGAGAGG,NC_000014.9:95125506:AGAGAGGCAGAGAGGCAGAGAGG:AGAGAGGCAGAGAGGCAGAGAGGCAGAGAGG
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGGCAGAGAGGCAGAGAGGCAGAGAGG=0./0
(
ALFA)
- HGVS:
3.
rs1491391809 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:95097450
(GRCh38)
14:95563788
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95097450:A:AA
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491384847 has merged into rs371779719 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:95158703
(GRCh38)
14:95625040
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:95158691:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DICER1 (Varview), DICER1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.02041/12
(NorthernSweden)
T=0.25399/1272
(1000Genomes)
- HGVS:
NC_000014.9:g.95158703_95158707del, NC_000014.9:g.95158704_95158707del, NC_000014.9:g.95158706_95158707del, NC_000014.9:g.95158707del, NC_000014.9:g.95158707dup, NC_000014.9:g.95158706_95158707dup, NC_000014.9:g.95158705_95158707dup, NC_000014.9:g.95158704_95158707dup, NC_000014.9:g.95158703_95158707dup, NC_000014.9:g.95158702_95158707dup, NC_000014.9:g.95158707_95158708insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.95625040_95625044del, NC_000014.8:g.95625041_95625044del, NC_000014.8:g.95625043_95625044del, NC_000014.8:g.95625044del, NC_000014.8:g.95625044dup, NC_000014.8:g.95625043_95625044dup, NC_000014.8:g.95625042_95625044dup, NC_000014.8:g.95625041_95625044dup, NC_000014.8:g.95625040_95625044dup, NC_000014.8:g.95625039_95625044dup, NC_000014.8:g.95625044_95625045insTTTTTTTTTTTTTTTTTTTTTTT, NG_016311.1:g.3727_3731del, NG_016311.1:g.3728_3731del, NG_016311.1:g.3730_3731del, NG_016311.1:g.3731del, NG_016311.1:g.3731dup, NG_016311.1:g.3730_3731dup, NG_016311.1:g.3729_3731dup, NG_016311.1:g.3728_3731dup, NG_016311.1:g.3727_3731dup, NG_016311.1:g.3726_3731dup, NG_016311.1:g.3731_3732insAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491287145 has merged into rs35599190 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 14:95098561
(GRCh38)
14:95564898
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95098553:AAAAAAAAAA:AAAAAAA,NC_000014.9:95098553:AAAAAAAAAA:AAAAAAAA,NC_000014.9:95098553:AAAAAAAAAA:AAAAAAAAA,NC_000014.9:95098553:AAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:95098553:AAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:95098553:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AA=0.07167/43
(NorthernSweden)
AA=0.075/3
(GENOME_DK)
AA=0.08511/328
(ALSPAC)
AA=0.08517/85
(GoNL)
AA=0.09142/339
(TWINSUK)
AA=0.10603/475
(Estonian)
AA=0.15276/765
(1000Genomes)
AA=0.4214/772
(Korea1K)
- HGVS:
NC_000014.9:g.95098561_95098563del, NC_000014.9:g.95098562_95098563del, NC_000014.9:g.95098563del, NC_000014.9:g.95098563dup, NC_000014.9:g.95098562_95098563dup, NC_000014.9:g.95098561_95098563dup, NC_000014.8:g.95564898_95564900del, NC_000014.8:g.95564899_95564900del, NC_000014.8:g.95564900del, NC_000014.8:g.95564900dup, NC_000014.8:g.95564899_95564900dup, NC_000014.8:g.95564898_95564900dup, NG_016311.1:g.63867_63869del, NG_016311.1:g.63868_63869del, NG_016311.1:g.63869del, NG_016311.1:g.63869dup, NG_016311.1:g.63868_63869dup, NG_016311.1:g.63867_63869dup
6.
rs1491245618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:95121886
(GRCh38)
14:95588224
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95121886:G:GG
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491225035 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:95116090
(GRCh38)
14:95582427
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95116089:CG:
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.003878/46
(
ALFA)
-=0.005525/766
(GnomAD)
- HGVS:
8.
rs1491157595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 14:95158692
(GRCh38)
14:95625030
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95158692:T:TGT
- Gene:
- DICER1 (Varview), DICER1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.00011/7
(GnomAD)
- HGVS:
9.
rs1491110994 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:95097450
(GRCh38)
14:95563787
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95097449:TA:
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000108/2
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000068/18
(TOPMED)
-=0.000223/1
(Estonian)
- HGVS:
10.
rs1491029539 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:95136125
(GRCh38)
14:95602462
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95136124:AG:
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
11.
rs1490949316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:95147051
(GRCh38)
14:95613388
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95147050:G:A
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000064/9
(GnomAD)
A=0.000087/23
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
12.
rs1490923428 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:95149377
(GRCh38)
14:95615714
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95149376:AT:
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490920571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:95112003
(GRCh38)
14:95578340
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95112002:A:C
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490844734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:95139047
(GRCh38)
14:95605384
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95139046:A:T
- Gene:
- DICER1 (Varview), MIR3173 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490796195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:95122820
(GRCh38)
14:95589157
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95122819:A:G
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
16.
rs1490750443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:95159205
(GRCh38)
14:95625542
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95159204:G:A
- Gene:
- DICER1 (Varview), DICER1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1490713423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:95106929
(GRCh38)
14:95573266
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95106928:T:A
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000248/4
(TOMMO)
- HGVS:
18.
rs1490541659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:95130258
(GRCh38)
14:95596595
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95130257:C:A
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490459837 has merged into rs918188703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 14:95098024
(GRCh38)
14:95564361
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- DICER1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.00016/3
(
ALFA)
-=0.00067/3
(Estonian)
- HGVS:
20.
rs1490419358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 14:95137979
(GRCh38)
14:95604316
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95137977:GGG:G
- Gene:
- DICER1 (Varview), MIR3173 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: