Links from Gene
Items: 1 to 20 of 5433
1.
rs1491291460 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:49511614
(GRCh38)
1:49977286
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49511613:AT:
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490862727 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 1:49496979
(GRCh38)
1:49962652
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49496979::GA
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GA=0.0169/31
(Korea1K)
- HGVS:
3.
rs1490768600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:49509261
(GRCh38)
1:49974933
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49509260:A:C
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490738026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:49510142
(GRCh38)
1:49975814
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49510141:A:C
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
5.
rs1490672477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:49493644
(GRCh38)
1:49959316
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49493643:A:G
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490604523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:49509631
(GRCh38)
1:49975303
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49509630:T:C
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- 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:
7.
rs1490376213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:49499552
(GRCh38)
1:49965224
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49499551:C:A
- Gene:
- AGBL4 (Varview), LOC107984954 (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:
8.
rs1490328963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:49502462
(GRCh38)
1:49968134
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49502461:T:C
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- 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:
9.
rs1489715228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:49510874
(GRCh38)
1:49976546
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49510873:G:C,NC_000001.11:49510873:G:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489603840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:49511660
(GRCh38)
1:49977332
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49511659:C:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489362525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:49505465
(GRCh38)
1:49971137
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49505464:C:G
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489279493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:49491557
(GRCh38)
1:49957229
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49491556:A:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1489041084 has merged into rs1026061207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 1:49498654
(GRCh38)
1:49964326
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49498653:AAAAAAAAA:AAAAAAAA,NC_000001.11:49498653:AAAAAAAAA:AAAAAAAAAA
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.00006/1
(TOMMO)
- HGVS:
14.
rs1489019662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:49499622
(GRCh38)
1:49965294
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49499621:C:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
15.
rs1489011982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:49495398
(GRCh38)
1:49961070
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49495397:G:A
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
16.
rs1488838602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:49496415
(GRCh38)
1:49962087
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49496414:G:A,NC_000001.11:49496414:G:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488816570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:49511394
(GRCh38)
1:49977066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49511393:G:T
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1488685757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:49503981
(GRCh38)
1:49969653
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49503980:G:A
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000079/11
(GnomAD)
A=0.000113/30
(TOPMED)
- HGVS:
19.
rs1488622278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:49500103
(GRCh38)
1:49965775
(GRCh37)
- Canonical SPDI:
- NC_000001.11:49500102:A:C
- Gene:
- AGBL4 (Varview), LOC107984954 (Varview)
- Functional Consequence:
- 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: