Links from Gene
Items: 1 to 20 of 7452
1.
rs1491511664 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:74935281
(GRCh38)
2:75162409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74935281::C
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000086/12
(GnomAD)
- HGVS:
2.
rs1491505483 has merged into rs11343831 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:74910300
(GRCh38)
2:75137427
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:74910289:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2242/1123
(1000Genomes)
-=0.2439/940
(ALSPAC)
- HGVS:
NC_000002.12:g.74910300_74910304del, NC_000002.12:g.74910301_74910304del, NC_000002.12:g.74910302_74910304del, NC_000002.12:g.74910303_74910304del, NC_000002.12:g.74910304del, NC_000002.12:g.74910304dup, NC_000002.12:g.74910303_74910304dup, NC_000002.12:g.74910302_74910304dup, NC_000002.12:g.74910304_74910305insTTTTTTTTTTTTTTTT, NC_000002.11:g.75137427_75137431del, NC_000002.11:g.75137428_75137431del, NC_000002.11:g.75137429_75137431del, NC_000002.11:g.75137430_75137431del, NC_000002.11:g.75137431del, NC_000002.11:g.75137431dup, NC_000002.11:g.75137430_75137431dup, NC_000002.11:g.75137429_75137431dup, NC_000002.11:g.75137431_75137432insTTTTTTTTTTTTTTTT
3.
rs1491409832 has merged into rs756127065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 2:74935282
(GRCh38)
2:75162409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74935280:TTT:T,NC_000002.12:74935280:TTT:TTTTT
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001837/30
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000781/5
(1000Genomes)
-=0.0014/196
(GnomAD)
-=0.001667/1
(NorthernSweden)
-=0.159924/593
(TWINSUK)
-=0.17151/661
(ALSPAC)
- HGVS:
4.
rs1491393554 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 2:74932026
(GRCh38)
2:75159153
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74932025:GA:
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
6.
rs1491250424 has merged into rs34623576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 2:74935268
(GRCh38)
2:75162395
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:74935256:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCT=0./0
(
ALFA)
TC=0.33667/202
(NorthernSweden)
TC=0.35/14
(GENOME_DK)
- HGVS:
NC_000002.12:g.74935258CT[5], NC_000002.12:g.74935258CT[6], NC_000002.12:g.74935258CT[7], NC_000002.12:g.74935258CT[8], NC_000002.12:g.74935258CT[9], NC_000002.12:g.74935258CT[10], NC_000002.12:g.74935258CT[11], NC_000002.12:g.74935258CT[13], NC_000002.12:g.74935258CT[14], NC_000002.12:g.74935258CT[15], NC_000002.12:g.74935258CT[16], NC_000002.12:g.74935258CT[18], NC_000002.12:g.74935258CT[20], NC_000002.11:g.75162385CT[5], NC_000002.11:g.75162385CT[6], NC_000002.11:g.75162385CT[7], NC_000002.11:g.75162385CT[8], NC_000002.11:g.75162385CT[9], NC_000002.11:g.75162385CT[10], NC_000002.11:g.75162385CT[11], NC_000002.11:g.75162385CT[13], NC_000002.11:g.75162385CT[14], NC_000002.11:g.75162385CT[15], NC_000002.11:g.75162385CT[16], NC_000002.11:g.75162385CT[18], NC_000002.11:g.75162385CT[20]
7.
rs1491104143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:74932026
(GRCh38)
2:75159154
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74932026:A:AA
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1491074119 has merged into rs34999802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:74926377
(GRCh38)
2:75153504
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74926364:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:74926364:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:74926364:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:74926364:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:74926364:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3678/1842
(1000Genomes)
T=0.45/18
(GENOME_DK)
- HGVS:
9.
rs1490874318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:74931556
(GRCh38)
2:75158683
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74931555:G:A
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490868012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:74916409
(GRCh38)
2:75143536
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74916408:A:G,NC_000002.12:74916408:A:T
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490809675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:74909326
(GRCh38)
2:75136453
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74909325:A:G,NC_000002.12:74909325:A:T
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490790957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:74922198
(GRCh38)
2:75149325
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74922197:A:C
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490739817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:74923017
(GRCh38)
2:75150144
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74923016:T:G
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000212/4
(TOMMO)
- HGVS:
14.
rs1490654937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:74929840
(GRCh38)
2:75156967
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74929839:G:A
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490558413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:74914484
(GRCh38)
2:75141611
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74914483:A:T
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00005/7
(GnomAD)
- HGVS:
16.
rs1490528470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:74908519
(GRCh38)
2:75135646
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74908518:T:C
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490525491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:74912629
(GRCh38)
2:75139756
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74912628:G:A,NC_000002.12:74912628:G:C
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
18.
rs1490376771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:74915977
(GRCh38)
2:75143104
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74915976:C:T
- Gene:
- LINC01291 (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:
19.
rs1490353517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:74928678
(GRCh38)
2:75155805
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74928677:G:A
- Gene:
- LINC01291 (Varview), LOC105374809 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490319047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:74908984
(GRCh38)
2:75136111
(GRCh37)
- Canonical SPDI:
- NC_000002.12:74908983:A:C,NC_000002.12:74908983:A:G
- Gene:
- LINC01291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: