Links from Gene
Items: 1 to 20 of 4893
2.
rs1491396703 has merged into rs34390099 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG
[Show Flanks]
- Chromosome:
- 19:44749294
(GRCh38)
19:45252551
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000019.10:44749284:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0./0
(
ALFA)
G=0.0056/28
(1000Genomes)
- HGVS:
NC_000019.10:g.44749294_44749297del, NC_000019.10:g.44749295_44749297del, NC_000019.10:g.44749296_44749297del, NC_000019.10:g.44749297del, NC_000019.10:g.44749297dup, NC_000019.10:g.44749296_44749297dup, NC_000019.10:g.44749295_44749297dup, NC_000019.9:g.45252551_45252554del, NC_000019.9:g.45252552_45252554del, NC_000019.9:g.45252553_45252554del, NC_000019.9:g.45252554del, NC_000019.9:g.45252554dup, NC_000019.9:g.45252553_45252554dup, NC_000019.9:g.45252552_45252554dup, NG_052809.1:g.11674_11677del, NG_052809.1:g.11675_11677del, NG_052809.1:g.11676_11677del, NG_052809.1:g.11677del, NG_052809.1:g.11677dup, NG_052809.1:g.11676_11677dup, NG_052809.1:g.11675_11677dup
4.
rs1490906280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:44759199
(GRCh38)
19:45262456
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44759198:G:C
- Gene:
- BCL3 (Varview), MIR8085 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.00067/14
(TOMMO)
- HGVS:
5.
rs1490805114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44743809
(GRCh38)
19:45247066
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44743808:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
6.
rs1490774181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:44753851
(GRCh38)
19:45257108
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44753850:A:C,NC_000019.10:44753850:A:G
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
7.
rs1490608684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44753599
(GRCh38)
19:45256856
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44753598:G:A
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490549683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:44741865
(GRCh38)
19:45245122
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44741864:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000447/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
9.
rs1490410650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44760113
(GRCh38)
19:45263370
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44760112:C:T
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000043/6
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
10.
rs1490316781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:44742781
(GRCh38)
19:45246038
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44742780:C:A,NC_000019.10:44742780:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490014821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44758694
(GRCh38)
19:45261951
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44758693:G:A
- Gene:
- BCL3 (Varview), MIR8085 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489950948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44754807
(GRCh38)
19:45258064
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44754806:C:T
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1489806870 has merged into rs3138632 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 19:44752091
(GRCh38)
19:45255348
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000019.10:44752078:CACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.44752079CA[6], NC_000019.10:g.44752079CA[7], NC_000019.10:g.44752079CA[9], NC_000019.10:g.44752079CA[10], NC_000019.10:g.44752079CA[11], NC_000019.10:g.44752079CA[12], NC_000019.10:g.44752079CA[13], NC_000019.10:g.44752079CA[14], NC_000019.10:g.44752079CA[15], NC_000019.10:g.44752079CA[17], NC_000019.10:g.44752079CA[18], NC_000019.10:g.44752079CA[19], NC_000019.10:g.44752079CA[20], NC_000019.9:g.45255336CA[6], NC_000019.9:g.45255336CA[7], NC_000019.9:g.45255336CA[9], NC_000019.9:g.45255336CA[10], NC_000019.9:g.45255336CA[11], NC_000019.9:g.45255336CA[12], NC_000019.9:g.45255336CA[13], NC_000019.9:g.45255336CA[14], NC_000019.9:g.45255336CA[15], NC_000019.9:g.45255336CA[17], NC_000019.9:g.45255336CA[18], NC_000019.9:g.45255336CA[19], NC_000019.9:g.45255336CA[20], NG_052809.1:g.14459CA[6], NG_052809.1:g.14459CA[7], NG_052809.1:g.14459CA[9], NG_052809.1:g.14459CA[10], NG_052809.1:g.14459CA[11], NG_052809.1:g.14459CA[12], NG_052809.1:g.14459CA[13], NG_052809.1:g.14459CA[14], NG_052809.1:g.14459CA[15], NG_052809.1:g.14459CA[17], NG_052809.1:g.14459CA[18], NG_052809.1:g.14459CA[19], NG_052809.1:g.14459CA[20]
14.
rs1489585938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44746296
(GRCh38)
19:45249553
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44746295:C:T
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000051/7
(GnomAD)
T=0.000989/17
(TOMMO)
T=0.001092/2
(Korea1K)
T=0.001718/11
(1000Genomes)
- HGVS:
15.
rs1489495730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:44748589
(GRCh38)
19:45251846
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44748588:C:A,NC_000019.10:44748588:C:T
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
16.
rs1489032227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44760247
(GRCh38)
19:45263504
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44760246:A:G
- Gene:
- BCL3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488901387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:44758048
(GRCh38)
19:45261305
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44758047:G:C
- Gene:
- BCL3 (Varview), MIR8085 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488810747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:44755469
(GRCh38)
19:45258726
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44755468:T:G
- Gene:
- BCL3 (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:
19.
rs1488687591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACCTCAGCCCCTCCTCCCTCA>-
[Show Flanks]
- Chromosome:
- 19:44759169
(GRCh38)
19:45262426
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44759155:CCCTCCTCCCTCAGACCTCAGCCCCTCCTCCCTCA:CCCTCCTCCCTCA
- Gene:
- BCL3 (Varview), MIR8085 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCTCCTCCCTCA=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
20.
rs1488650341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:44744813
(GRCh38)
19:45248070
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44744812:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: