Links from Gene
Items: 1 to 20 of 789
1.
rs1490936892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:216869374
(GRCh38)
2:217734097
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216869373:T:G
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490472407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:216867782
(GRCh38)
2:217732505
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216867781:A:G
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
...more- HGVS:
3.
rs1489930073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:216866243
(GRCh38)
2:217730966
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216866242:G:C,NC_000002.12:216866242:G:T
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview), LOC124906118 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000602/10
(TOMMO)
...more- HGVS:
4.
rs1489519775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:216866873
(GRCh38)
2:217731596
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216866872:G:A
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
...more- HGVS:
6.
rs1484949096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:216869195
(GRCh38)
2:217733918
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216869194:C:T
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1484946297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:216868267
(GRCh38)
2:217732990
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216868266:G:A
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
...more- HGVS:
8.
rs1484007571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:216869634
(GRCh38)
2:217734357
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216869633:T:A
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1483950004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:216866821
(GRCh38)
2:217731544
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216866820:G:A
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
A=0.00006/16
(TOPMED)
...more- HGVS:
11.
rs1482156696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:216869768
(GRCh38)
2:217734491
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216869767:T:C
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00004/2
(GnomAD)
...more- HGVS:
12.
rs1481509450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:216868374
(GRCh38)
2:217733097
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216868373:T:C
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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)
...more- HGVS:
13.
rs1480570244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:216866800
(GRCh38)
2:217731523
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216866799:T:G
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1480529613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCCTCTCTGGGAT
[Show Flanks]
- Chromosome:
- 2:216867892
(GRCh38)
2:217732616
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216867892:AT:ATCCCCTCTCTGGGAT
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCCCCTCTCTGGGAT=0.00042/5
(
ALFA)
- HGVS:
15.
rs1480510522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:216868925
(GRCh38)
2:217733648
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216868924:A:T
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000114/16
(GnomAD)
T=0.000223/1
(Estonian)
...more- HGVS:
16.
rs1479141534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:216867260
(GRCh38)
2:217731983
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216867259:G:C
- Gene:
- IGFBP-AS1 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1477297295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:216869475
(GRCh38)
2:217734198
(GRCh37)
- Canonical SPDI:
- NC_000002.12:216869474:T:G
- Gene:
- IGFBP-AS1 (Varview), LINC01921 (Varview), LOC105373876 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0./0
(GnomAD)
G=0.000004/1
(TOPMED)
...more- HGVS: