Links from Gene
Items: 1 to 20 of 2400
1.
rs1491046778 has merged into rs35535845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:39090664
(GRCh38)
12:39484466
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.39090664_39090675del, NC_000012.12:g.39090673_39090675del, NC_000012.12:g.39090674_39090675del, NC_000012.12:g.39090675del, NC_000012.12:g.39090675dup, NC_000012.12:g.39090674_39090675dup, NC_000012.12:g.39090673_39090675dup, NC_000012.12:g.39090672_39090675dup, NC_000012.12:g.39090671_39090675dup, NC_000012.12:g.39090670_39090675dup, NC_000012.12:g.39090669_39090675dup, NC_000012.11:g.39484466_39484477del, NC_000012.11:g.39484475_39484477del, NC_000012.11:g.39484476_39484477del, NC_000012.11:g.39484477del, NC_000012.11:g.39484477dup, NC_000012.11:g.39484476_39484477dup, NC_000012.11:g.39484475_39484477dup, NC_000012.11:g.39484474_39484477dup, NC_000012.11:g.39484473_39484477dup, NC_000012.11:g.39484472_39484477dup, NC_000012.11:g.39484471_39484477dup
2.
rs1490816293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:39094050
(GRCh38)
12:39487852
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39094049:C:A
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490677631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:39095106
(GRCh38)
12:39488908
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39095105:G:T
- Gene:
- LINC02406 (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:
4.
rs1490537550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:39096405
(GRCh38)
12:39490207
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39096404:G:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490397754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:39087005
(GRCh38)
12:39480807
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39087004:C:G,NC_000012.12:39087004:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00006/16
(TOPMED)
- HGVS:
6.
rs1490328515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:39094606
(GRCh38)
12:39488408
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39094605:T:C
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490244556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:39096414
(GRCh38)
12:39490216
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39096413:A:G
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
8.
rs1489189511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:39096105
(GRCh38)
12:39489907
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39096104:C:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1487819640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 12:39090646
(GRCh38)
12:39484448
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39090645:G:C,NC_000012.12:39090645:G:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
10.
rs1486984751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:39094209
(GRCh38)
12:39488011
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39094208:G:A
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1486471789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:39096986
(GRCh38)
12:39490788
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39096985:T:C
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486351436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:39090278
(GRCh38)
12:39484080
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39090277:G:C
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.00463/1
(Vietnamese)
- HGVS:
13.
rs1485260474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:39092156
(GRCh38)
12:39485958
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39092155:C:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1484619910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:39095265
(GRCh38)
12:39489067
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39095264:T:A
- Gene:
- LINC02406 (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)
- HGVS:
16.
rs1484618501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:39087369
(GRCh38)
12:39481171
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39087368:A:G
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000064/9
(GnomAD)
G=0.008333/5
(NorthernSweden)
A=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1484560568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:39097255
(GRCh38)
12:39491057
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39097254:C:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483937167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:39088935
(GRCh38)
12:39482737
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39088934:C:T
- Gene:
- LINC02406 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1483313595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:39093257
(GRCh38)
12:39487059
(GRCh37)
- Canonical SPDI:
- NC_000012.12:39093256:A:G
- Gene:
- LINC02406 (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: