Links from Gene
Items: 1 to 20 of 3944
1.
rs1491537938 has merged into rs990721635 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:55780987
(GRCh38)
14:56247705
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55780985:ACA:A
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
2.
rs1491357065 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 14:55790708
(GRCh38)
14:56257426
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55790707:TT:
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491018523 has merged into rs537802536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:55782432
(GRCh38)
14:56249150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:55782423:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
T=0.01/6
(NorthernSweden)
-=0.094249/472
(1000Genomes)
- HGVS:
NC_000014.9:g.55782432_55782439del, NC_000014.9:g.55782436_55782439del, NC_000014.9:g.55782437_55782439del, NC_000014.9:g.55782438_55782439del, NC_000014.9:g.55782439del, NC_000014.9:g.55782439dup, NC_000014.9:g.55782438_55782439dup, NC_000014.9:g.55782437_55782439dup, NC_000014.8:g.56249150_56249157del, NC_000014.8:g.56249154_56249157del, NC_000014.8:g.56249155_56249157del, NC_000014.8:g.56249156_56249157del, NC_000014.8:g.56249157del, NC_000014.8:g.56249157dup, NC_000014.8:g.56249156_56249157dup, NC_000014.8:g.56249155_56249157dup, NR_026796.1:n.773_780del, NR_026796.1:n.777_780del, NR_026796.1:n.778_780del, NR_026796.1:n.779_780del, NR_026796.1:n.780del, NR_026796.1:n.780dup, NR_026796.1:n.779_780dup, NR_026796.1:n.778_780dup, NR_026797.1:n.711_718del, NR_026797.1:n.715_718del, NR_026797.1:n.716_718del, NR_026797.1:n.717_718del, NR_026797.1:n.718del, NR_026797.1:n.718dup, NR_026797.1:n.717_718dup, NR_026797.1:n.716_718dup
4.
rs1490850026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:55793964
(GRCh38)
14:56260682
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55793963:G:A
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490727841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:55787026
(GRCh38)
14:56253744
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55787025:C:G
- Gene:
- LINC00520 (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:
6.
rs1490351485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:55794432
(GRCh38)
14:56261150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55794431:G:A
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
7.
rs1490281788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:55781750
(GRCh38)
14:56248468
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55781749:C:T
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
8.
rs1489867738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:55796558
(GRCh38)
14:56263276
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55796557:C:G
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.00005/7
(GnomAD)
G=0.000156/1
(1000Genomes)
G=0.000318/5
(TOMMO)
G=0.000684/2
(KOREAN)
- HGVS:
9.
rs1489785661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:55780687
(GRCh38)
14:56247405
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55780686:C:A
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489378751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:55785572
(GRCh38)
14:56252290
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55785571:G:T
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489359729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:55797096
(GRCh38)
14:56263814
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55797095:A:C
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1488762732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:55795340
(GRCh38)
14:56262058
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55795339:A:G
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
13.
rs1488464267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:55789004
(GRCh38)
14:56255722
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55789003:A:C,NC_000014.9:55789003:A:G
- Gene:
- LINC00520 (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)
G=0.000071/2
(TOMMO)
- HGVS:
14.
rs1488396759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:55786024
(GRCh38)
14:56252742
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55786023:T:C
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
15.
rs1488200390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:55791241
(GRCh38)
14:56257959
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55791240:C:T
- Gene:
- LINC00520 (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:
16.
rs1488071557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:55792466
(GRCh38)
14:56259184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55792465:T:C
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
17.
rs1487963239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:55794258
(GRCh38)
14:56260976
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55794257:A:G
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487950661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:55795646
(GRCh38)
14:56262364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55795645:T:C
- Gene:
- LINC00520 (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:
19.
rs1487740815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:55785112
(GRCh38)
14:56251830
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55785111:A:T
- Gene:
- LINC00520 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487639629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:55784145
(GRCh38)
14:56250863
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55784144:C:G
- Gene:
- LINC00520 (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: