Links from Gene
Items: 1 to 20 of 1000
1.
rs1491586845 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:114124557
(GRCh38)
11:113995279
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114124556:CA:
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00599/71
(
ALFA)
-=0.00042/7
(TOMMO)
-=0.01223/887
(GnomAD)
- HGVS:
2.
rs1491583020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 11:114139627
(GRCh38)
11:114010350
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114139627:TGTGTGTGTGT:TGTGTGTGTGTCTGTGTGTGTGT
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGTCTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTC=0.00043/11
(GnomAD)
- HGVS:
3.
rs1491571470 has merged into rs3057730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 11:114166224
(GRCh38)
11:114036946
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:114166201:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.1148/575
(1000Genomes)
- HGVS:
NC_000011.10:g.114166202GT[11], NC_000011.10:g.114166202GT[12], NC_000011.10:g.114166202GT[13], NC_000011.10:g.114166202GT[14], NC_000011.10:g.114166202GT[15], NC_000011.10:g.114166202GT[16], NC_000011.10:g.114166202GT[17], NC_000011.10:g.114166202GT[18], NC_000011.10:g.114166202GT[19], NC_000011.10:g.114166202GT[20], NC_000011.10:g.114166202GT[21], NC_000011.10:g.114166202GT[22], NC_000011.10:g.114166202GT[24], NC_000011.10:g.114166202GT[25], NC_000011.10:g.114166202GT[26], NC_000011.10:g.114166202GT[27], NC_000011.10:g.114166202GT[28], NC_000011.10:g.114166202GT[29], NC_000011.10:g.114166202GT[30], NC_000011.10:g.114166202GT[31], NC_000011.10:g.114166202GT[32], NC_000011.9:g.114036924GT[11], NC_000011.9:g.114036924GT[12], NC_000011.9:g.114036924GT[13], NC_000011.9:g.114036924GT[14], NC_000011.9:g.114036924GT[15], NC_000011.9:g.114036924GT[16], NC_000011.9:g.114036924GT[17], NC_000011.9:g.114036924GT[18], NC_000011.9:g.114036924GT[19], NC_000011.9:g.114036924GT[20], NC_000011.9:g.114036924GT[21], NC_000011.9:g.114036924GT[22], NC_000011.9:g.114036924GT[24], NC_000011.9:g.114036924GT[25], NC_000011.9:g.114036924GT[26], NC_000011.9:g.114036924GT[27], NC_000011.9:g.114036924GT[28], NC_000011.9:g.114036924GT[29], NC_000011.9:g.114036924GT[30], NC_000011.9:g.114036924GT[31], NC_000011.9:g.114036924GT[32], NG_012140.2:g.111627GT[11], NG_012140.2:g.111627GT[12], NG_012140.2:g.111627GT[13], NG_012140.2:g.111627GT[14], NG_012140.2:g.111627GT[15], NG_012140.2:g.111627GT[16], NG_012140.2:g.111627GT[17], NG_012140.2:g.111627GT[18], NG_012140.2:g.111627GT[19], NG_012140.2:g.111627GT[20], NG_012140.2:g.111627GT[21], NG_012140.2:g.111627GT[22], NG_012140.2:g.111627GT[24], NG_012140.2:g.111627GT[25], NG_012140.2:g.111627GT[26], NG_012140.2:g.111627GT[27], NG_012140.2:g.111627GT[28], NG_012140.2:g.111627GT[29], NG_012140.2:g.111627GT[30], NG_012140.2:g.111627GT[31], NG_012140.2:g.111627GT[32]
4.
rs1491564892 has merged into rs1294230174 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 11:114096954
(GRCh38)
11:113967676
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114096950:CCCCC:CCC,NC_000011.10:114096950:CCCCC:CCCC
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0.00038/7
(
ALFA)
-=0.00064/11
(TOMMO)
-=0.00156/7
(Estonian)
-=0.00333/2
(NorthernSweden)
-=0.03275/60
(Korea1K)
- HGVS:
5.
rs1491563582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTCTGTCTCT,GTCTGTCTGTCTCT
[Show Flanks]
- Chromosome:
- 11:114148425
(GRCh38)
11:114019148
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114148425:TCTCT:TCTCTGTCTGTCTCT,NC_000011.10:114148425:TCTCT:TCTCTGTCTGTCTGTCTCT
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TCTCTGTCTGTCTG=0.00013/2
(GnomAD)
TCTCTGTCTG=0.00063/1
(Korea1K)
- HGVS:
7.
rs1491560399 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:114250661
(GRCh38)
11:114121383
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114250659:ACA:A
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
NC_000011.10:g.114250661_114250662del, NC_000011.9:g.114121383_114121384del, NG_012140.2:g.196086_196087del, NM_006006.6:c.*106_*107del, NM_006006.5:c.*106_*107del, NM_006006.4:c.*106_*107del, NM_001354750.2:c.*106_*107del, NM_001354750.1:c.*106_*107del, NM_001018011.2:c.*106_*107del, NM_001018011.3:c.*106_*107del, NM_001018011.1:c.*106_*107del, NM_001354751.2:c.*106_*107del, NM_001354751.1:c.*106_*107del, NM_001354752.1:c.*106_*107del
8.
rs1491544653 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 11:114166201
(GRCh38)
11:114036923
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114166200:CG:
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.002327/38
(
ALFA)
-=0.001492/165
(GnomAD)
- HGVS:
9.
rs1491505586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 11:114148424
(GRCh38)
11:114019146
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114148422:CCC:C
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.00116/14
(TOMMO)
-=0.01926/273
(GnomAD)
- HGVS:
10.
rs1491482705 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 11:114210686
(GRCh38)
11:114081408
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114210684:CCC:C
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.001093/7
(1000Genomes)
-=0.007653/39
(GnomAD)
- HGVS:
11.
rs1491469311 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 11:114235629
(GRCh38)
11:114106351
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114235628:CC:
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
13.
rs1491463719 has merged into rs144399770 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGCT>-,GGCTGGCT,GGCTGGCTGGCT,GGCTGGCTGGCTGGCT
[Show Flanks]
- Chromosome:
- 11:114148335
(GRCh38)
11:114019057
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114148325:TGGCTGGCTGGCT:TGGCTGGCT,NC_000011.10:114148325:TGGCTGGCTGGCT:TGGCTGGCTGGCTGGCT,NC_000011.10:114148325:TGGCTGGCTGGCT:TGGCTGGCTGGCTGGCTGGCT,NC_000011.10:114148325:TGGCTGGCTGGCT:TGGCTGGCTGGCTGGCTGGCTGGCT
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGGCTGGCTGGCTGGCTGGCTGGCT=0./0
(
ALFA)
TGGC=0.275/11
(GENOME_DK)
- HGVS:
NC_000011.10:g.114148327GGCT[2], NC_000011.10:g.114148327GGCT[4], NC_000011.10:g.114148327GGCT[5], NC_000011.10:g.114148327GGCT[6], NC_000011.9:g.114019049GGCT[2], NC_000011.9:g.114019049GGCT[4], NC_000011.9:g.114019049GGCT[5], NC_000011.9:g.114019049GGCT[6], NG_012140.2:g.93752GGCT[2], NG_012140.2:g.93752GGCT[4], NG_012140.2:g.93752GGCT[5], NG_012140.2:g.93752GGCT[6]
14.
rs1491451287 has merged into rs71063553 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 11:114233073
(GRCh38)
11:114103795
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000011.10:114233066:GCGCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGCGC
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGC=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000011.10:g.114233067GC[3], NC_000011.10:g.114233067GC[4], NC_000011.10:g.114233067GC[5], NC_000011.10:g.114233067GC[6], NC_000011.10:g.114233067GC[7], NC_000011.10:g.114233067GC[9], NC_000011.10:g.114233067GC[10], NC_000011.10:g.114233067GC[11], NC_000011.10:g.114233067GC[12], NC_000011.10:g.114233067GC[13], NC_000011.10:g.114233067GC[14], NC_000011.10:g.114233067GC[15], NC_000011.9:g.114103789GC[3], NC_000011.9:g.114103789GC[4], NC_000011.9:g.114103789GC[5], NC_000011.9:g.114103789GC[6], NC_000011.9:g.114103789GC[7], NC_000011.9:g.114103789GC[9], NC_000011.9:g.114103789GC[10], NC_000011.9:g.114103789GC[11], NC_000011.9:g.114103789GC[12], NC_000011.9:g.114103789GC[13], NC_000011.9:g.114103789GC[14], NC_000011.9:g.114103789GC[15], NG_012140.2:g.178492GC[3], NG_012140.2:g.178492GC[4], NG_012140.2:g.178492GC[5], NG_012140.2:g.178492GC[6], NG_012140.2:g.178492GC[7], NG_012140.2:g.178492GC[9], NG_012140.2:g.178492GC[10], NG_012140.2:g.178492GC[11], NG_012140.2:g.178492GC[12], NG_012140.2:g.178492GC[13], NG_012140.2:g.178492GC[14], NG_012140.2:g.178492GC[15]
15.
rs1491444717 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 11:114176002
(GRCh38)
11:114046724
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114176000:GCG:G
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000071/1
(TOMMO)
-=0.000173/23
(GnomAD)
- HGVS:
16.
rs1491435014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 11:114256035
(GRCh38)
11:114126757
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114256033:TGT:T
- Gene:
- NNMT (Varview), ZBTB16 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.003625/43
(
ALFA)
-=0.005991/665
(GnomAD)
- HGVS:
NC_000011.10:g.114256035_114256036del, NC_000011.9:g.114126757_114126758del, NG_012140.2:g.201460_201461del, NM_006006.6:c.*5480_*5481del, NM_006006.5:c.*5480_*5481del, NM_001354750.2:c.*5480_*5481del, NM_001354750.1:c.*5480_*5481del, NM_001018011.2:c.*5480_*5481del, NM_001018011.3:c.*5480_*5481del, NM_001354751.2:c.*5480_*5481del, NM_001354751.1:c.*5480_*5481del, NM_001354752.1:c.*5480_*5481del
17.
rs1491402137 has merged into rs71063549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:114119275
(GRCh38)
11:113989997
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:114119264:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000011.10:g.114119275_114119292del, NC_000011.10:g.114119277_114119292del, NC_000011.10:g.114119279_114119292del, NC_000011.10:g.114119281_114119292del, NC_000011.10:g.114119282_114119292del, NC_000011.10:g.114119283_114119292del, NC_000011.10:g.114119284_114119292del, NC_000011.10:g.114119285_114119292del, NC_000011.10:g.114119286_114119292del, NC_000011.10:g.114119287_114119292del, NC_000011.10:g.114119288_114119292del, NC_000011.10:g.114119289_114119292del, NC_000011.10:g.114119290_114119292del, NC_000011.10:g.114119291_114119292del, NC_000011.10:g.114119292del, NC_000011.10:g.114119292dup, NC_000011.10:g.114119291_114119292dup, NC_000011.10:g.114119290_114119292dup, NC_000011.10:g.114119289_114119292dup, NC_000011.10:g.114119288_114119292dup, NC_000011.10:g.114119287_114119292dup, NC_000011.10:g.114119286_114119292dup, NC_000011.10:g.114119285_114119292dup, NC_000011.9:g.113989997_113990014del, NC_000011.9:g.113989999_113990014del, NC_000011.9:g.113990001_113990014del, NC_000011.9:g.113990003_113990014del, NC_000011.9:g.113990004_113990014del, NC_000011.9:g.113990005_113990014del, NC_000011.9:g.113990006_113990014del, NC_000011.9:g.113990007_113990014del, NC_000011.9:g.113990008_113990014del, NC_000011.9:g.113990009_113990014del, NC_000011.9:g.113990010_113990014del, NC_000011.9:g.113990011_113990014del, NC_000011.9:g.113990012_113990014del, NC_000011.9:g.113990013_113990014del, NC_000011.9:g.113990014del, NC_000011.9:g.113990014dup, NC_000011.9:g.113990013_113990014dup, NC_000011.9:g.113990012_113990014dup, NC_000011.9:g.113990011_113990014dup, NC_000011.9:g.113990010_113990014dup, NC_000011.9:g.113990009_113990014dup, NC_000011.9:g.113990008_113990014dup, NC_000011.9:g.113990007_113990014dup, NG_012140.2:g.64700_64717del, NG_012140.2:g.64702_64717del, NG_012140.2:g.64704_64717del, NG_012140.2:g.64706_64717del, NG_012140.2:g.64707_64717del, NG_012140.2:g.64708_64717del, NG_012140.2:g.64709_64717del, NG_012140.2:g.64710_64717del, NG_012140.2:g.64711_64717del, NG_012140.2:g.64712_64717del, NG_012140.2:g.64713_64717del, NG_012140.2:g.64714_64717del, NG_012140.2:g.64715_64717del, NG_012140.2:g.64716_64717del, NG_012140.2:g.64717del, NG_012140.2:g.64717dup, NG_012140.2:g.64716_64717dup, NG_012140.2:g.64715_64717dup, NG_012140.2:g.64714_64717dup, NG_012140.2:g.64713_64717dup, NG_012140.2:g.64712_64717dup, NG_012140.2:g.64711_64717dup, NG_012140.2:g.64710_64717dup
18.
rs1491395853 has merged into rs3057711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:114146858
(GRCh38)
11:114017580
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:114146848:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.4698/2353
(1000Genomes)
- HGVS:
NC_000011.10:g.114146858_114146866del, NC_000011.10:g.114146860_114146866del, NC_000011.10:g.114146863_114146866del, NC_000011.10:g.114146864_114146866del, NC_000011.10:g.114146865_114146866del, NC_000011.10:g.114146866del, NC_000011.10:g.114146866dup, NC_000011.10:g.114146865_114146866dup, NC_000011.10:g.114146861_114146866dup, NC_000011.9:g.114017580_114017588del, NC_000011.9:g.114017582_114017588del, NC_000011.9:g.114017585_114017588del, NC_000011.9:g.114017586_114017588del, NC_000011.9:g.114017587_114017588del, NC_000011.9:g.114017588del, NC_000011.9:g.114017588dup, NC_000011.9:g.114017587_114017588dup, NC_000011.9:g.114017583_114017588dup, NG_012140.2:g.92283_92291del, NG_012140.2:g.92285_92291del, NG_012140.2:g.92288_92291del, NG_012140.2:g.92289_92291del, NG_012140.2:g.92290_92291del, NG_012140.2:g.92291del, NG_012140.2:g.92291dup, NG_012140.2:g.92290_92291dup, NG_012140.2:g.92286_92291dup
19.
rs1491390735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 11:114148437
(GRCh38)
11:114019159
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114148435:TTT:T
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01694/201
(
ALFA)
-=0.00878/131
(TOMMO)
-=0.08967/3703
(GnomAD)
- HGVS:
20.
rs1491374972 has merged into rs1223012032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTATCT
[Show Flanks]
- Chromosome:
- 11:114235682
(GRCh38)
11:114106404
(GRCh37)
- Canonical SPDI:
- NC_000011.10:114235680:TCT:T,NC_000011.10:114235680:TCT:TCTATCT
- Gene:
- ZBTB16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTATCT=0./0
(
ALFA)
TCTA=0.00008/2
(GnomAD)
TCTA=0.00019/1
(TOMMO)
- HGVS: