Links from Gene
Items: 1 to 20 of 1000
1.
rs1491499087 has merged into rs1461726380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 19:58524433
(GRCh38)
19:59035800
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58524430:ATATAT:AT,NC_000019.10:58524430:ATATAT:ATAT,NC_000019.10:58524430:ATATAT:ATATATAT
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
-=0.00593/98
(TOMMO)
-=0.01365/25
(Korea1K)
- HGVS:
2.
rs1491487639 has merged into rs1180915172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:58521375
(GRCh38)
19:59032742
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:58521366:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.58521375_58521384del, NC_000019.10:g.58521378_58521384del, NC_000019.10:g.58521382_58521384del, NC_000019.10:g.58521383_58521384del, NC_000019.10:g.58521384del, NC_000019.10:g.58521384dup, NC_000019.10:g.58521383_58521384dup, NC_000019.10:g.58521382_58521384dup, NC_000019.10:g.58521381_58521384dup, NC_000019.10:g.58521380_58521384dup, NC_000019.10:g.58521379_58521384dup, NC_000019.10:g.58521378_58521384dup, NC_000019.10:g.58521377_58521384dup, NC_000019.10:g.58521376_58521384dup, NC_000019.9:g.59032742_59032751del, NC_000019.9:g.59032745_59032751del, NC_000019.9:g.59032749_59032751del, NC_000019.9:g.59032750_59032751del, NC_000019.9:g.59032751del, NC_000019.9:g.59032751dup, NC_000019.9:g.59032750_59032751dup, NC_000019.9:g.59032749_59032751dup, NC_000019.9:g.59032748_59032751dup, NC_000019.9:g.59032747_59032751dup, NC_000019.9:g.59032746_59032751dup, NC_000019.9:g.59032745_59032751dup, NC_000019.9:g.59032744_59032751dup, NC_000019.9:g.59032743_59032751dup
4.
rs1491458297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGTGT
[Show Flanks]
- Chromosome:
- 19:58524431
(GRCh38)
19:59035799
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58524431:T:TGT,NC_000019.10:58524431:T:TGTGT,NC_000019.10:58524431:T:TGTGTGT,NC_000019.10:58524431:T:TGTGTGTGTGT
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TGTGTGTGTG=0.00055/1
(Korea1K)
- HGVS:
5.
rs1491387616 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 19:58530210
(GRCh38)
19:59041578
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58530210:A:AAA
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
AA=0.0001/2
(GnomAD)
- HGVS:
6.
rs1491365505 has merged into rs1319783348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 19:58543096
(GRCh38)
19:59054463
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
- Gene:
- TRIM28 (Varview), ZBTB45 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.58543096_58543098del, NC_000019.10:g.58543097_58543098del, NC_000019.10:g.58543098del, NC_000019.10:g.58543098dup, NC_000019.10:g.58543097_58543098dup, NC_000019.9:g.59054463_59054465del, NC_000019.9:g.59054464_59054465del, NC_000019.9:g.59054465del, NC_000019.9:g.59054465dup, NC_000019.9:g.59054464_59054465dup, NG_046945.1:g.3628_3630del, NG_046945.1:g.3629_3630del, NG_046945.1:g.3630del, NG_046945.1:g.3630dup, NG_046945.1:g.3629_3630dup
7.
rs1491364541 has merged into rs111340524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 19:58530225
(GRCh38)
19:59041592
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:58530209:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
CA=0.3804/1905
(1000Genomes)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000019.10:g.58530211AC[7], NC_000019.10:g.58530211AC[8], NC_000019.10:g.58530211AC[9], NC_000019.10:g.58530211AC[10], NC_000019.10:g.58530211AC[11], NC_000019.10:g.58530211AC[12], NC_000019.10:g.58530211AC[14], NC_000019.10:g.58530211AC[15], NC_000019.10:g.58530211AC[16], NC_000019.10:g.58530211AC[17], NC_000019.10:g.58530211AC[18], NC_000019.10:g.58530211AC[19], NC_000019.10:g.58530211AC[20], NC_000019.10:g.58530211AC[21], NC_000019.10:g.58530211AC[22], NC_000019.9:g.59041578AC[7], NC_000019.9:g.59041578AC[8], NC_000019.9:g.59041578AC[9], NC_000019.9:g.59041578AC[10], NC_000019.9:g.59041578AC[11], NC_000019.9:g.59041578AC[12], NC_000019.9:g.59041578AC[14], NC_000019.9:g.59041578AC[15], NC_000019.9:g.59041578AC[16], NC_000019.9:g.59041578AC[17], NC_000019.9:g.59041578AC[18], NC_000019.9:g.59041578AC[19], NC_000019.9:g.59041578AC[20], NC_000019.9:g.59041578AC[21], NC_000019.9:g.59041578AC[22]
8.
rs1491264695 has merged into rs1319783348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 19:58543096
(GRCh38)
19:59054463
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58543090:TTTTTTTT:TTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTT,NC_000019.10:58543090:TTTTTTTT:TTTTTTTTTT
- Gene:
- TRIM28 (Varview), ZBTB45 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.58543096_58543098del, NC_000019.10:g.58543097_58543098del, NC_000019.10:g.58543098del, NC_000019.10:g.58543098dup, NC_000019.10:g.58543097_58543098dup, NC_000019.9:g.59054463_59054465del, NC_000019.9:g.59054464_59054465del, NC_000019.9:g.59054465del, NC_000019.9:g.59054465dup, NC_000019.9:g.59054464_59054465dup, NG_046945.1:g.3628_3630del, NG_046945.1:g.3629_3630del, NG_046945.1:g.3630del, NG_046945.1:g.3630dup, NG_046945.1:g.3629_3630dup
10.
rs1491214757 has merged into rs71293931 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:58526538
(GRCh38)
19:59037905
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58526525:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.58526538_58526549del, NC_000019.10:g.58526540_58526549del, NC_000019.10:g.58526541_58526549del, NC_000019.10:g.58526542_58526549del, NC_000019.10:g.58526543_58526549del, NC_000019.10:g.58526544_58526549del, NC_000019.10:g.58526545_58526549del, NC_000019.10:g.58526546_58526549del, NC_000019.10:g.58526547_58526549del, NC_000019.10:g.58526548_58526549del, NC_000019.10:g.58526549del, NC_000019.10:g.58526549dup, NC_000019.10:g.58526547_58526549dup, NC_000019.9:g.59037905_59037916del, NC_000019.9:g.59037907_59037916del, NC_000019.9:g.59037908_59037916del, NC_000019.9:g.59037909_59037916del, NC_000019.9:g.59037910_59037916del, NC_000019.9:g.59037911_59037916del, NC_000019.9:g.59037912_59037916del, NC_000019.9:g.59037913_59037916del, NC_000019.9:g.59037914_59037916del, NC_000019.9:g.59037915_59037916del, NC_000019.9:g.59037916del, NC_000019.9:g.59037916dup, NC_000019.9:g.59037914_59037916dup
12.
rs1491186500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT,ATTAT,ATTATTAT
[Show Flanks]
- Chromosome:
- 19:58526526
(GRCh38)
19:59037894
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58526526:T:TAT,NC_000019.10:58526526:T:TATTAT,NC_000019.10:58526526:T:TATTATTAT
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTAT=0./0
(
ALFA)
TA=0.000218/4
(TOMMO)
TA=0.000602/71
(GnomAD)
- HGVS:
13.
rs1490873497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:58514983
(GRCh38)
19:59026350
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58514982:G:A
- Gene:
- ZBTB45 (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:
14.
rs1490858335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:58516035
(GRCh38)
19:59027402
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58516034:A:G
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490830641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:58534626
(GRCh38)
19:59045993
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58534625:G:A,NC_000019.10:58534625:G:C
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490736785 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GACAGGATTCTCCCCACACACAC>-
[Show Flanks]
- Chromosome:
- 19:58539972
(GRCh38)
19:59051339
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58539971:GACAGGATTCTCCCCACACACAC:
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00141/2
(Korea1K)
-=0.0019/27
(TOMMO)
- HGVS:
17.
rs1490736162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:58521777
(GRCh38)
19:59033144
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58521776:T:G
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
18.
rs1490699255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:58539144
(GRCh38)
19:59050511
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58539143:C:A,NC_000019.10:58539143:C:T
- Gene:
- ZBTB45 (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=0.000024/3
(GnomAD)
A=0.000289/5
(TOMMO)
- HGVS:
20.
rs1490587844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:58540267
(GRCh38)
19:59051634
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58540266:C:A,NC_000019.10:58540266:C:T
- Gene:
- ZBTB45 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00039/8
(TOMMO)
A=0.00925/27
(KOREAN)
C=0.5/3
(SGDP_PRJ)
- HGVS: