Links from Gene
Items: 1 to 20 of 1000
2.
rs1491488093 has merged into rs144943744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:33734215
(GRCh38)
6:33701992
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33734203:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.2668/1336
(1000Genomes)
- HGVS:
NC_000006.12:g.33734215_33734225del, NC_000006.12:g.33734217_33734225del, NC_000006.12:g.33734218_33734225del, NC_000006.12:g.33734219_33734225del, NC_000006.12:g.33734220_33734225del, NC_000006.12:g.33734221_33734225del, NC_000006.12:g.33734222_33734225del, NC_000006.12:g.33734223_33734225del, NC_000006.12:g.33734224_33734225del, NC_000006.12:g.33734225del, NC_000006.12:g.33734225dup, NC_000006.12:g.33734224_33734225dup, NC_000006.11:g.33701992_33702002del, NC_000006.11:g.33701994_33702002del, NC_000006.11:g.33701995_33702002del, NC_000006.11:g.33701996_33702002del, NC_000006.11:g.33701997_33702002del, NC_000006.11:g.33701998_33702002del, NC_000006.11:g.33701999_33702002del, NC_000006.11:g.33702000_33702002del, NC_000006.11:g.33702001_33702002del, NC_000006.11:g.33702002del, NC_000006.11:g.33702002dup, NC_000006.11:g.33702001_33702002dup
4.
rs1491288824 has merged into rs10570024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:33725239
(GRCh38)
6:33693016
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33725228:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1809/697
(ALSPAC)
A=0.4587/2297
(1000Genomes)
- HGVS:
NC_000006.12:g.33725239_33725246del, NC_000006.12:g.33725242_33725246del, NC_000006.12:g.33725243_33725246del, NC_000006.12:g.33725244_33725246del, NC_000006.12:g.33725245_33725246del, NC_000006.12:g.33725246del, NC_000006.12:g.33725246dup, NC_000006.12:g.33725245_33725246dup, NC_000006.12:g.33725244_33725246dup, NC_000006.12:g.33725243_33725246dup, NC_000006.12:g.33725240_33725246dup, NC_000006.11:g.33693016_33693023del, NC_000006.11:g.33693019_33693023del, NC_000006.11:g.33693020_33693023del, NC_000006.11:g.33693021_33693023del, NC_000006.11:g.33693022_33693023del, NC_000006.11:g.33693023del, NC_000006.11:g.33693023dup, NC_000006.11:g.33693022_33693023dup, NC_000006.11:g.33693021_33693023dup, NC_000006.11:g.33693020_33693023dup, NC_000006.11:g.33693017_33693023dup
5.
rs1491211799 has merged into rs10562436 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 6:33741987
(GRCh38)
6:33709764
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33741975:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4024/2015
(1000Genomes)
AA=0.4476/1725
(ALSPAC)
- HGVS:
NC_000006.12:g.33741987_33741989del, NC_000006.12:g.33741988_33741989del, NC_000006.12:g.33741989del, NC_000006.12:g.33741989dup, NC_000006.12:g.33741988_33741989dup, NC_000006.12:g.33741987_33741989dup, NC_000006.11:g.33709764_33709766del, NC_000006.11:g.33709765_33709766del, NC_000006.11:g.33709766del, NC_000006.11:g.33709766dup, NC_000006.11:g.33709765_33709766dup, NC_000006.11:g.33709764_33709766dup
7.
rs1491037883 has merged into rs35735336 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:33748653
(GRCh38)
6:33716430
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33748642:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.1302/652
(1000Genomes)
- HGVS:
NC_000006.12:g.33748653_33748667del, NC_000006.12:g.33748654_33748667del, NC_000006.12:g.33748655_33748667del, NC_000006.12:g.33748656_33748667del, NC_000006.12:g.33748657_33748667del, NC_000006.12:g.33748658_33748667del, NC_000006.12:g.33748659_33748667del, NC_000006.12:g.33748660_33748667del, NC_000006.12:g.33748661_33748667del, NC_000006.12:g.33748662_33748667del, NC_000006.12:g.33748663_33748667del, NC_000006.12:g.33748664_33748667del, NC_000006.12:g.33748665_33748667del, NC_000006.12:g.33748666_33748667del, NC_000006.12:g.33748667del, NC_000006.12:g.33748667dup, NC_000006.12:g.33748666_33748667dup, NC_000006.12:g.33748665_33748667dup, NC_000006.12:g.33748664_33748667dup, NC_000006.12:g.33748663_33748667dup, NC_000006.12:g.33748662_33748667dup, NC_000006.12:g.33748661_33748667dup, NC_000006.12:g.33748660_33748667dup, NC_000006.12:g.33748659_33748667dup, NC_000006.12:g.33748658_33748667dup, NC_000006.12:g.33748656_33748667dup, NC_000006.11:g.33716430_33716444del, NC_000006.11:g.33716431_33716444del, NC_000006.11:g.33716432_33716444del, NC_000006.11:g.33716433_33716444del, NC_000006.11:g.33716434_33716444del, NC_000006.11:g.33716435_33716444del, NC_000006.11:g.33716436_33716444del, NC_000006.11:g.33716437_33716444del, NC_000006.11:g.33716438_33716444del, NC_000006.11:g.33716439_33716444del, NC_000006.11:g.33716440_33716444del, NC_000006.11:g.33716441_33716444del, NC_000006.11:g.33716442_33716444del, NC_000006.11:g.33716443_33716444del, NC_000006.11:g.33716444del, NC_000006.11:g.33716444dup, NC_000006.11:g.33716443_33716444dup, NC_000006.11:g.33716442_33716444dup, NC_000006.11:g.33716441_33716444dup, NC_000006.11:g.33716440_33716444dup, NC_000006.11:g.33716439_33716444dup, NC_000006.11:g.33716438_33716444dup, NC_000006.11:g.33716437_33716444dup, NC_000006.11:g.33716436_33716444dup, NC_000006.11:g.33716435_33716444dup, NC_000006.11:g.33716433_33716444dup
8.
rs1490697341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:33723962
(GRCh38)
6:33691739
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33723961:G:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490680424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:33739232
(GRCh38)
6:33707009
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33739231:T:C
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490585398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:33731424
(GRCh38)
6:33699201
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33731423:A:C
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
11.
rs1490535837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:33723392
(GRCh38)
6:33691169
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33723391:T:C
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490507963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:33746536
(GRCh38)
6:33714313
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33746535:C:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.00006/1
(TOMMO)
A=0.000342/1
(KOREAN)
- HGVS:
14.
rs1490260814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:33733885
(GRCh38)
6:33701662
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33733884:G:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000045/12
(TOPMED)
- HGVS:
15.
rs1490208108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:33724463
(GRCh38)
6:33692240
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33724462:G:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489748470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:33732728
(GRCh38)
6:33700505
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33732727:G:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489736068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:33736863
(GRCh38)
6:33704640
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33736862:C:T
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489723847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:33722795
(GRCh38)
6:33690572
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33722794:A:G
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
NC_000006.12:g.33722795A>G, NC_000006.11:g.33690572A>G, NM_054111.5:c.1158T>C, NM_054111.4:c.1158T>C, XM_005248843.5:c.819T>C, XM_005248843.4:c.819T>C, XM_005248843.3:c.819T>C, XM_005248843.2:c.819T>C, XM_005248843.1:c.819T>C, XM_011514295.4:c.*1512T>C, XM_005248842.4:c.1158T>C, XM_005248842.3:c.1158T>C, XM_005248842.2:c.1158T>C, XM_005248842.1:c.1158T>C, XM_024446324.2:c.1158T>C, XM_024446324.1:c.1158T>C, XM_024446323.2:c.1158T>C, XM_024446323.1:c.1158T>C, NM_001142883.2:c.1158T>C, NM_001142883.1:c.1158T>C, XM_024446325.2:c.1158T>C, XM_024446325.1:c.1158T>C, XM_047418168.1:c.1158T>C
19.
rs1489652409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:33721552
(GRCh38)
6:33689329
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33721551:G:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489652023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:33748625
(GRCh38)
6:33716402
(GRCh37)
- Canonical SPDI:
- NC_000006.12:33748624:C:A
- Gene:
- IP6K3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS: