Links from Gene
Items: 1 to 20 of 16120
1.
rs1491561249 has merged into rs1210022653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 6:22649690
(GRCh38)
6:22649919
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LINC03005 (Varview), LOC105374973 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.00973/163
(TOMMO)
- HGVS:
2.
rs1491525977 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CA,CCA,CCT,G,T
[Show Flanks]
- Chromosome:
- 6:22693888
(GRCh38)
6:22694118
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693888::CA,NC_000006.12:22693888::CCA,NC_000006.12:22693888::CCT,NC_000006.12:22693888::G,NC_000006.12:22693888::T
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCA=0./0
(
ALFA)
CCA=0.000004/1
(TOPMED)
T=0.00006/1
(TOMMO)
- HGVS:
3.
rs1491498819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT
[Show Flanks]
- Chromosome:
- 6:22715296
(GRCh38)
6:22715525
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22715291:TTTTTT:TTTT,NC_000006.12:22715291:TTTTTT:TTTTTTT
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
T=0.000071/2
(TOMMO)
-=0.002729/5
(Korea1K)
- HGVS:
4.
rs1491491465 has merged into rs10710539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 6:22693885
(GRCh38)
6:22694114
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCCC=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.22693885_22693888del, NC_000006.12:g.22693886_22693888del, NC_000006.12:g.22693887_22693888del, NC_000006.12:g.22693888del, NC_000006.12:g.22693888dup, NC_000006.12:g.22693887_22693888dup, NC_000006.12:g.22693886_22693888dup, NC_000006.11:g.22694114_22694117del, NC_000006.11:g.22694115_22694117del, NC_000006.11:g.22694116_22694117del, NC_000006.11:g.22694117del, NC_000006.11:g.22694117dup, NC_000006.11:g.22694116_22694117dup, NC_000006.11:g.22694115_22694117dup
5.
rs1491487461 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 6:22693877
(GRCh38)
6:22694107
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693877::A,NC_000006.12:22693877::G
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000138/1
(GnomAD)
- HGVS:
7.
rs1491410703 has merged into rs149215528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 6:22702879
(GRCh38)
6:22703108
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.00047/3
(1000Genomes)
- HGVS:
8.
rs1491264232 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:22715292
(GRCh38)
6:22715522
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22715292::A
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000223/1
(Estonian)
A=0.000765/107
(GnomAD)
A=0.002729/5
(Korea1K)
- HGVS:
9.
rs1491228314 has merged into rs34573706 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:22693876
(GRCh38)
6:22694105
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693875:AC:
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.14968/555
(TWINSUK)
-=0.16243/626
(ALSPAC)
- HGVS:
11.
rs1491213240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACC,GC
[Show Flanks]
- Chromosome:
- 6:22693876
(GRCh38)
6:22694106
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693876:C:CACC,NC_000006.12:22693876:C:CGC
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGC=0./0
(
ALFA)
CAC=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491151442 has merged into rs34438001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 6:22685290
(GRCh38)
6:22685519
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4077/2042
(1000Genomes)
T=0.425/17
(GENOME_DK)
- HGVS:
13.
rs1491074161 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:22693878
(GRCh38)
6:22694108
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22693878::G
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.00003/1
(GnomAD)
- HGVS:
14.
rs1491057193 has merged into rs70996696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 6:22698986
(GRCh38)
6:22699215
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.405/1601
(1000Genomes)
- HGVS:
15.
rs1491038590 has merged into rs35444095 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:22676090
(GRCh38)
6:22676319
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2542/1273
(1000Genomes)
- HGVS:
NC_000006.12:g.22676090_22676093del, NC_000006.12:g.22676091_22676093del, NC_000006.12:g.22676092_22676093del, NC_000006.12:g.22676093del, NC_000006.12:g.22676093dup, NC_000006.12:g.22676092_22676093dup, NC_000006.12:g.22676091_22676093dup, NC_000006.12:g.22676090_22676093dup, NC_000006.12:g.22676081_22676093dup, NC_000006.11:g.22676319_22676322del, NC_000006.11:g.22676320_22676322del, NC_000006.11:g.22676321_22676322del, NC_000006.11:g.22676322del, NC_000006.11:g.22676322dup, NC_000006.11:g.22676321_22676322dup, NC_000006.11:g.22676320_22676322dup, NC_000006.11:g.22676319_22676322dup, NC_000006.11:g.22676310_22676322dup
16.
rs1491033373 has merged into rs57982782 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:22650519
(GRCh38)
6:22650748
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC03005 (Varview), LOC105374973 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0203/12
(NorthernSweden)
-=0.1599/801
(1000Genomes)
T=0.375/3
(KOREAN)
- HGVS:
NC_000006.12:g.22650519_22650523del, NC_000006.12:g.22650520_22650523del, NC_000006.12:g.22650521_22650523del, NC_000006.12:g.22650522_22650523del, NC_000006.12:g.22650523del, NC_000006.12:g.22650523dup, NC_000006.12:g.22650522_22650523dup, NC_000006.12:g.22650521_22650523dup, NC_000006.12:g.22650520_22650523dup, NC_000006.12:g.22650519_22650523dup, NC_000006.12:g.22650516_22650523dup, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650748_22650752del, NC_000006.11:g.22650749_22650752del, NC_000006.11:g.22650750_22650752del, NC_000006.11:g.22650751_22650752del, NC_000006.11:g.22650752del, NC_000006.11:g.22650752dup, NC_000006.11:g.22650751_22650752dup, NC_000006.11:g.22650750_22650752dup, NC_000006.11:g.22650749_22650752dup, NC_000006.11:g.22650748_22650752dup, NC_000006.11:g.22650745_22650752dup, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
17.
rs1491032042 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:22681248
(GRCh38)
6:22681478
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22681248::G
- Gene:
- LINC03005 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00017/2
(
ALFA)
G=0.00038/35
(GnomAD)
- HGVS:
19.
rs1490941035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:22645344
(GRCh38)
6:22645573
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22645343:A:G
- Gene:
- LINC03005 (Varview), LOC105374973 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490923596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:22663565
(GRCh38)
6:22663794
(GRCh37)
- Canonical SPDI:
- NC_000006.12:22663564:C:T
- Gene:
- LOC102724736 (Varview), LINC03005 (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: