Links from Gene
Items: 1 to 20 of 14593
1.
rs1491491693 has merged into rs143600450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 5:102640927
(GRCh38)
5:101976631
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102640919:AAAAAAAAA:AAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAAAA,NC_000005.10:102640919:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.11334/463
(1000Genomes)
A=0.13974/256
(Korea1K)
A=0.25917/961
(TWINSUK)
A=0.26855/1035
(ALSPAC)
A=0.285/171
(NorthernSweden)
A=0.35/14
(GENOME_DK)
- HGVS:
3.
rs1491318681 has merged into rs3072295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:102647694
(GRCh38)
5:101983398
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102647686:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.4808/2408
(1000Genomes)
- HGVS:
NC_000005.10:g.102647694_102647701del, NC_000005.10:g.102647695_102647701del, NC_000005.10:g.102647698_102647701del, NC_000005.10:g.102647699_102647701del, NC_000005.10:g.102647700_102647701del, NC_000005.10:g.102647701del, NC_000005.10:g.102647701dup, NC_000005.10:g.102647700_102647701dup, NC_000005.10:g.102647696_102647701dup, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.102647701_102647702insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983398_101983405del, NC_000005.9:g.101983399_101983405del, NC_000005.9:g.101983402_101983405del, NC_000005.9:g.101983403_101983405del, NC_000005.9:g.101983404_101983405del, NC_000005.9:g.101983405del, NC_000005.9:g.101983405dup, NC_000005.9:g.101983404_101983405dup, NC_000005.9:g.101983400_101983405dup, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.101983405_101983406insAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491183773 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAAG
[Show Flanks]
- Chromosome:
- 5:102669856
(GRCh38)
5:102005561
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102669856::AAAG
- Gene:
- LINC00491 (Varview), LOC105379104 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAG=0./0
(
ALFA)
AAAG=0.000015/4
(TOPMED)
AAAG=0.000028/3
(GnomAD)
- HGVS:
5.
rs1491154362 has merged into rs141913587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT,CTCTCT
[Show Flanks]
- Chromosome:
- 5:102623262
(GRCh38)
5:101958966
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000005.10:102623250:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCT=0.0181/310
(
ALFA)
TC=0.00655/110
(TOMMO)
TC=0.01255/23
(Korea1K)
TC=0.02705/27
(GoNL)
TC=0.03241/7
(Vietnamese)
TC=0.05/30
(NorthernSweden)
TC=0.05045/226
(Estonian)
TC=0.07823/392
(1000Genomes)
- HGVS:
6.
rs1491079797 has merged into rs3072294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 5:102645842
(GRCh38)
5:101981546
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102645832:AAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3558/950
(1000Genomes)
- HGVS:
NC_000005.10:g.102645842_102645843del, NC_000005.10:g.102645843del, NC_000005.10:g.102645843dup, NC_000005.10:g.102645842_102645843dup, NC_000005.10:g.102645841_102645843dup, NC_000005.10:g.102645840_102645843dup, NC_000005.9:g.101981546_101981547del, NC_000005.9:g.101981547del, NC_000005.9:g.101981547dup, NC_000005.9:g.101981546_101981547dup, NC_000005.9:g.101981545_101981547dup, NC_000005.9:g.101981544_101981547dup
7.
rs1491047855 has merged into rs33941393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:102669452
(GRCh38)
5:102005156
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:102669445:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00491 (Varview), LOC105379104 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.102669452_102669462del, NC_000005.10:g.102669455_102669462del, NC_000005.10:g.102669460_102669462del, NC_000005.10:g.102669461_102669462del, NC_000005.10:g.102669462del, NC_000005.10:g.102669462dup, NC_000005.10:g.102669461_102669462dup, NC_000005.10:g.102669460_102669462dup, NC_000005.10:g.102669459_102669462dup, NC_000005.10:g.102669458_102669462dup, NC_000005.10:g.102669457_102669462dup, NC_000005.9:g.102005156_102005166del, NC_000005.9:g.102005159_102005166del, NC_000005.9:g.102005164_102005166del, NC_000005.9:g.102005165_102005166del, NC_000005.9:g.102005166del, NC_000005.9:g.102005166dup, NC_000005.9:g.102005165_102005166dup, NC_000005.9:g.102005164_102005166dup, NC_000005.9:g.102005163_102005166dup, NC_000005.9:g.102005162_102005166dup, NC_000005.9:g.102005161_102005166dup
8.
rs1491010346 has merged into rs141596538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:102635427
(GRCh38)
5:101971131
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:102635418:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.102635427_102635439del, NC_000005.10:g.102635428_102635439del, NC_000005.10:g.102635429_102635439del, NC_000005.10:g.102635433_102635439del, NC_000005.10:g.102635434_102635439del, NC_000005.10:g.102635436_102635439del, NC_000005.10:g.102635437_102635439del, NC_000005.10:g.102635438_102635439del, NC_000005.10:g.102635439del, NC_000005.10:g.102635439dup, NC_000005.10:g.102635438_102635439dup, NC_000005.10:g.102635437_102635439dup, NC_000005.10:g.102635436_102635439dup, NC_000005.10:g.102635435_102635439dup, NC_000005.10:g.102635433_102635439dup, NC_000005.10:g.102635432_102635439dup, NC_000005.9:g.101971131_101971143del, NC_000005.9:g.101971132_101971143del, NC_000005.9:g.101971133_101971143del, NC_000005.9:g.101971137_101971143del, NC_000005.9:g.101971138_101971143del, NC_000005.9:g.101971140_101971143del, NC_000005.9:g.101971141_101971143del, NC_000005.9:g.101971142_101971143del, NC_000005.9:g.101971143del, NC_000005.9:g.101971143dup, NC_000005.9:g.101971142_101971143dup, NC_000005.9:g.101971141_101971143dup, NC_000005.9:g.101971140_101971143dup, NC_000005.9:g.101971139_101971143dup, NC_000005.9:g.101971137_101971143dup, NC_000005.9:g.101971136_101971143dup
9.
rs1490972350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:102624909
(GRCh38)
5:101960613
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102624908:T:C
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490795113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:102651552
(GRCh38)
5:101987256
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102651551:G:A
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490748837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:102659976
(GRCh38)
5:101995680
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102659975:T:C
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490735393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:102667601
(GRCh38)
5:102003305
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102667600:C:A
- Gene:
- LINC00491 (Varview), LOC105379104 (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:
13.
rs1490664006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:102666338
(GRCh38)
5:102002042
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102666337:T:C
- Gene:
- LINC00491 (Varview), LOC105379104 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000005.10:g.102666338T>C, NC_000005.9:g.102002042T>C, NG_053794.1:g.3070T>C, XR_948631.4:n.1022T>C, XR_948631.3:n.1072T>C, XR_948631.2:n.1069T>C, XR_948631.1:n.917T>C, XR_948630.4:n.1022T>C, XR_948630.3:n.1072T>C, XR_948630.2:n.1069T>C, XR_948630.1:n.917T>C, XR_948632.4:n.1022T>C, XR_948632.3:n.1072T>C, XR_948632.2:n.1069T>C, XR_948632.1:n.917T>C
14.
rs1490586561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:102658872
(GRCh38)
5:101994576
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102658871:T:C
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490535721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:102656755
(GRCh38)
5:101992459
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102656754:A:C
- Gene:
- LINC00491 (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:
16.
rs1490508453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:102672610
(GRCh38)
5:102008314
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102672609:T:C
- Gene:
- LINC00491 (Varview), LOC105379104 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000035/1
(TOMMO)
C=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490460785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:102642286
(GRCh38)
5:101977990
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102642285:G:A
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490446135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:102628640
(GRCh38)
5:101964344
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102628639:A:T
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490438736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:102641185
(GRCh38)
5:101976889
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102641184:G:A
- Gene:
- LINC00491 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
A=0.001667/1
(NorthernSweden)
G=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1490423660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:102643539
(GRCh38)
5:101979243
(GRCh37)
- Canonical SPDI:
- NC_000005.10:102643538:C:G,NC_000005.10:102643538:C:T
- Gene:
- LINC00491 (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: