Links from Gene
Items: 1 to 20 of 8683
1.
rs1491371688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 15:86083206
(GRCh38)
15:86626437
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86083203:AGAG:AG
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491320970 has merged into rs397854465 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:86095662
(GRCh38)
15:86638893
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:86095647:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.86095662_86095675del, NC_000015.10:g.86095664_86095675del, NC_000015.10:g.86095665_86095675del, NC_000015.10:g.86095666_86095675del, NC_000015.10:g.86095669_86095675del, NC_000015.10:g.86095670_86095675del, NC_000015.10:g.86095673_86095675del, NC_000015.10:g.86095674_86095675del, NC_000015.10:g.86095675del, NC_000015.10:g.86095675dup, NC_000015.10:g.86095674_86095675dup, NC_000015.10:g.86095673_86095675dup, NC_000015.10:g.86095672_86095675dup, NC_000015.9:g.86638893_86638906del, NC_000015.9:g.86638895_86638906del, NC_000015.9:g.86638896_86638906del, NC_000015.9:g.86638897_86638906del, NC_000015.9:g.86638900_86638906del, NC_000015.9:g.86638901_86638906del, NC_000015.9:g.86638904_86638906del, NC_000015.9:g.86638905_86638906del, NC_000015.9:g.86638906del, NC_000015.9:g.86638906dup, NC_000015.9:g.86638905_86638906dup, NC_000015.9:g.86638904_86638906dup, NC_000015.9:g.86638903_86638906dup, NG_033836.2:g.20855_20868del, NG_033836.2:g.20857_20868del, NG_033836.2:g.20858_20868del, NG_033836.2:g.20859_20868del, NG_033836.2:g.20862_20868del, NG_033836.2:g.20863_20868del, NG_033836.2:g.20866_20868del, NG_033836.2:g.20867_20868del, NG_033836.2:g.20868del, NG_033836.2:g.20868dup, NG_033836.2:g.20867_20868dup, NG_033836.2:g.20866_20868dup, NG_033836.2:g.20865_20868dup
3.
rs1491151089 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:86095647
(GRCh38)
15:86638878
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86095646:CT:
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.017788/211
(
ALFA)
-=0.011526/174
(TOMMO)
-=0.016827/1817
(GnomAD)
- HGVS:
4.
rs1490949509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:86094432
(GRCh38)
15:86637663
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86094431:T:A,NC_000015.10:86094431:T:C
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.001027/3
(KOREAN)
- HGVS:
5.
rs1490786200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:86105106
(GRCh38)
15:86648337
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86105105:T:C
- Gene:
- AGBL1 (Varview), LINC01584 (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:
6.
rs1490485597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:86112152
(GRCh38)
15:86655383
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86112151:A:G
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490345430 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:86092370
(GRCh38)
15:86635601
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86092369:A:
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490320485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:86091418
(GRCh38)
15:86634649
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86091417:C:T
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490038007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:86094386
(GRCh38)
15:86637617
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86094385:T:G
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489996855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 15:86112509
(GRCh38)
15:86655740
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86112508:A:G,NC_000015.10:86112508:A:T
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
12.
rs1489965123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:86095935
(GRCh38)
15:86639166
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86095934:T:C
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
13.
rs1489950443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:86113232
(GRCh38)
15:86656463
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86113231:C:G,NC_000015.10:86113231:C:T
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1489919304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:86108430
(GRCh38)
15:86651661
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86108429:A:G
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489698114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:86107118
(GRCh38)
15:86650349
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86107117:C:T
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489507669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:86103428
(GRCh38)
15:86646659
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86103427:C:T
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
19.
rs1489472562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:86090064
(GRCh38)
15:86633295
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86090063:T:C
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489436036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:86103575
(GRCh38)
15:86646806
(GRCh37)
- Canonical SPDI:
- NC_000015.10:86103574:G:C
- Gene:
- AGBL1 (Varview), LINC01584 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: