Links from Gene
Items: 1 to 20 of 1000
1.
rs1491589436 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 5:140419788
(GRCh38)
5:139799373
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140419786:TTT:T
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00006/1
(TOMMO)
-=0.00124/74
(GnomAD)
- HGVS:
2.
rs1491563577 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 5:140485427
(GRCh38)
5:139865012
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140485426:CG:
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
3.
rs1491501889 has merged into rs528063904 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 5:140411510
(GRCh38)
5:139791095
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140411497:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:140411497:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:140411497:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:140411497:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:140411497:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.00038/6
(
ALFA)
T=0.04833/29
(NorthernSweden)
T=0.125/5
(GENOME_DK)
- HGVS:
4.
rs1491456656 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:140491403
(GRCh38)
5:139870988
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140491399:AGAGA:AGA
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1491426701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 5:140491081
(GRCh38)
5:139870667
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140491081:G:GCG
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0./0
(
ALFA)
GC=0.00016/14
(GnomAD)
- HGVS:
6.
rs1491421756 has merged into rs5871737 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:140466403
(GRCh38)
5:139845988
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:140466392:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.2504/965
(ALSPAC)
A=0.2581/957
(TWINSUK)
A=0.3502/201
(NorthernSweden)
A=0.425/17
(GENOME_DK)
- HGVS:
NC_000005.10:g.140466403_140466406del, NC_000005.10:g.140466404_140466406del, NC_000005.10:g.140466405_140466406del, NC_000005.10:g.140466406del, NC_000005.10:g.140466406dup, NC_000005.10:g.140466405_140466406dup, NC_000005.10:g.140466400_140466406dup, NC_000005.10:g.140466406_140466407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.139845988_139845991del, NC_000005.9:g.139845989_139845991del, NC_000005.9:g.139845990_139845991del, NC_000005.9:g.139845991del, NC_000005.9:g.139845991dup, NC_000005.9:g.139845990_139845991dup, NC_000005.9:g.139845985_139845991dup, NC_000005.9:g.139845991_139845992insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1491397805 has merged into rs1356342178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:140491082
(GRCh38)
5:139870667
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140491080:TGTGTGTGTGTGT:T,NC_000005.10:140491080:TGTGTGTGTGTGT:TGTGTGTGT,NC_000005.10:140491080:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:140491080:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.00114/2
(Korea1K)
-=0.02833/17
(NorthernSweden)
-=0.03467/222
(1000Genomes)
- HGVS:
8.
rs1491397308 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:140419791
(GRCh38)
5:139799377
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140419791::C
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00015/8
(GnomAD)
C=0.00395/64
(TOMMO)
- HGVS:
9.
rs1491378048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,CT,CTT
[Show Flanks]
- Chromosome:
- 5:140523108
(GRCh38)
5:139902694
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140523108::A,NC_000005.10:140523108::CT,NC_000005.10:140523108::CTT
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491353128 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:140546689
(GRCh38)
5:139926275
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140546689::C
- Gene:
- EIF4EBP3 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000337/4
(
ALFA)
C=0.000387/51
(GnomAD)
- HGVS:
12.
rs1491331964 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 5:140444090
(GRCh38)
5:139823676
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140444090::CT
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
CT=0.0001/6
(GnomAD)
- HGVS:
14.
rs1491282789 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 5:140441507
(GRCh38)
5:139821092
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140441506:CCCCC:CCCC,NC_000005.10:140441506:CCCCC:CCCCCC
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
15.
rs1491279577 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:140475580
(GRCh38)
5:139855165
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140475579:AG:
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000427/6
(
ALFA)
-=0.000506/71
(GnomAD)
-=0.000544/144
(TOPMED)
-=0.000625/4
(1000Genomes)
- HGVS:
16.
rs1491174523 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:140475572
(GRCh38)
5:139855157
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140475571:TA:
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
-=0.000142/2
(TOMMO)
- HGVS:
17.
rs1491171717 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 5:140441506
(GRCh38)
5:139821091
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140441505:TC:
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
18.
rs1491150672 has merged into rs55859898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACAC>-,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 5:140485408
(GRCh38)
5:139864993
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:140485397:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACAC=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000005.10:g.140485398AC[5], NC_000005.10:g.140485398AC[8], NC_000005.10:g.140485398AC[9], NC_000005.10:g.140485398AC[10], NC_000005.10:g.140485398AC[11], NC_000005.10:g.140485398AC[12], NC_000005.10:g.140485398AC[13], NC_000005.10:g.140485398AC[14], NC_000005.10:g.140485398AC[16], NC_000005.10:g.140485398AC[17], NC_000005.10:g.140485398AC[18], NC_000005.10:g.140485398AC[19], NC_000005.10:g.140485398AC[20], NC_000005.10:g.140485398AC[21], NC_000005.10:g.140485398AC[22], NC_000005.10:g.140485398AC[23], NC_000005.10:g.140485398AC[24], NC_000005.10:g.140485398AC[25], NC_000005.10:g.140485398AC[26], NC_000005.10:g.140485398AC[27], NC_000005.10:g.140485398AC[28], NC_000005.10:g.140485398AC[29], NC_000005.10:g.140485398AC[30], NC_000005.9:g.139864983AC[5], NC_000005.9:g.139864983AC[8], NC_000005.9:g.139864983AC[9], NC_000005.9:g.139864983AC[10], NC_000005.9:g.139864983AC[11], NC_000005.9:g.139864983AC[12], NC_000005.9:g.139864983AC[13], NC_000005.9:g.139864983AC[14], NC_000005.9:g.139864983AC[16], NC_000005.9:g.139864983AC[17], NC_000005.9:g.139864983AC[18], NC_000005.9:g.139864983AC[19], NC_000005.9:g.139864983AC[20], NC_000005.9:g.139864983AC[21], NC_000005.9:g.139864983AC[22], NC_000005.9:g.139864983AC[23], NC_000005.9:g.139864983AC[24], NC_000005.9:g.139864983AC[25], NC_000005.9:g.139864983AC[26], NC_000005.9:g.139864983AC[27], NC_000005.9:g.139864983AC[28], NC_000005.9:g.139864983AC[29], NC_000005.9:g.139864983AC[30]
19.
rs1491100432 has merged into rs77558757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 5:140546694
(GRCh38)
5:139926279
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140546688:AAAAAAAAAA:AAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:140546688:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- EIF4EBP3 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.01167/7
(NorthernSweden)
A=0.01787/299
(TOMMO)
A=0.02293/42
(Korea1K)
- HGVS:
NC_000005.10:g.140546694_140546698del, NC_000005.10:g.140546695_140546698del, NC_000005.10:g.140546696_140546698del, NC_000005.10:g.140546697_140546698del, NC_000005.10:g.140546698del, NC_000005.10:g.140546698dup, NC_000005.10:g.140546697_140546698dup, NC_000005.10:g.140546696_140546698dup, NC_000005.9:g.139926279_139926283del, NC_000005.9:g.139926280_139926283del, NC_000005.9:g.139926281_139926283del, NC_000005.9:g.139926282_139926283del, NC_000005.9:g.139926283del, NC_000005.9:g.139926283dup, NC_000005.9:g.139926282_139926283dup, NC_000005.9:g.139926281_139926283dup
20.
rs1491089457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAGATCTGCCCGA
[Show Flanks]
- Chromosome:
- 5:140491400
(GRCh38)
5:139870986
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140491400:GAGATCTGCCCGA:GAGATCTGCCCGAGGAGATCTGCCCGA
- Gene:
- ANKHD1 (Varview), ANKHD1-EIF4EBP3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGATCTGCCCGAGGAGATCTGCCCGA=0./0
(
ALFA)
GAGATCTGCCCGAG=0.000007/1
(GnomAD)
- HGVS: