Links from Gene
Items: 1 to 20 of 7171
1.
rs1491576611 has merged into rs71573979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:126755021
(GRCh38)
5:126090713
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126755009:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.126755021_126755023del, NC_000005.10:g.126755023del, NC_000005.10:g.126755023dup, NC_000005.10:g.126755022_126755023dup, NC_000005.10:g.126755021_126755023dup, NC_000005.10:g.126755020_126755023dup, NC_000005.10:g.126755019_126755023dup, NC_000005.10:g.126755018_126755023dup, NC_000005.10:g.126755017_126755023dup, NC_000005.10:g.126755016_126755023dup, NC_000005.10:g.126755023_126755024insTTTTTTTTTTTTTTTTTT, NC_000005.10:g.126755023_126755024insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.126755023_126755024insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.126090713_126090715del, NC_000005.9:g.126090715del, NC_000005.9:g.126090715dup, NC_000005.9:g.126090714_126090715dup, NC_000005.9:g.126090713_126090715dup, NC_000005.9:g.126090712_126090715dup, NC_000005.9:g.126090711_126090715dup, NC_000005.9:g.126090710_126090715dup, NC_000005.9:g.126090709_126090715dup, NC_000005.9:g.126090708_126090715dup, NC_000005.9:g.126090715_126090716insTTTTTTTTTTTTTTTTTT, NC_000005.9:g.126090715_126090716insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.126090715_126090716insTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491496794 has merged into rs1554111086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA
[Show Flanks]
- Chromosome:
- 5:126768982
(GRCh38)
5:126104674
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126768980:AAA:A,NC_000005.10:126768980:AAA:AAAA
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491405628 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:126755009
(GRCh38)
5:126090701
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126755008:CT:
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
7.
rs1491237157 has merged into rs60807184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:126757956
(GRCh38)
5:126093648
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:126757946:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.126757956_126757972del, NC_000005.10:g.126757957_126757972del, NC_000005.10:g.126757962_126757972del, NC_000005.10:g.126757963_126757972del, NC_000005.10:g.126757964_126757972del, NC_000005.10:g.126757965_126757972del, NC_000005.10:g.126757966_126757972del, NC_000005.10:g.126757967_126757972del, NC_000005.10:g.126757968_126757972del, NC_000005.10:g.126757969_126757972del, NC_000005.10:g.126757970_126757972del, NC_000005.10:g.126757971_126757972del, NC_000005.10:g.126757972del, NC_000005.10:g.126757972dup, NC_000005.9:g.126093648_126093664del, NC_000005.9:g.126093649_126093664del, NC_000005.9:g.126093654_126093664del, NC_000005.9:g.126093655_126093664del, NC_000005.9:g.126093656_126093664del, NC_000005.9:g.126093657_126093664del, NC_000005.9:g.126093658_126093664del, NC_000005.9:g.126093659_126093664del, NC_000005.9:g.126093660_126093664del, NC_000005.9:g.126093661_126093664del, NC_000005.9:g.126093662_126093664del, NC_000005.9:g.126093663_126093664del, NC_000005.9:g.126093664del, NC_000005.9:g.126093664dup
8.
rs1491145572 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:126757946
(GRCh38)
5:126093638
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126757945:AT:
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
9.
rs1491126078 has merged into rs558186304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:126763440
(GRCh38)
5:126099132
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126763429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
-=0.2724/1364
(1000Genomes)
- HGVS:
NC_000005.10:g.126763440_126763452del, NC_000005.10:g.126763441_126763452del, NC_000005.10:g.126763442_126763452del, NC_000005.10:g.126763443_126763452del, NC_000005.10:g.126763444_126763452del, NC_000005.10:g.126763445_126763452del, NC_000005.10:g.126763447_126763452del, NC_000005.10:g.126763448_126763452del, NC_000005.10:g.126763449_126763452del, NC_000005.10:g.126763450_126763452del, NC_000005.10:g.126763451_126763452del, NC_000005.10:g.126763452del, NC_000005.10:g.126763452dup, NC_000005.10:g.126763451_126763452dup, NC_000005.10:g.126763450_126763452dup, NC_000005.10:g.126763449_126763452dup, NC_000005.10:g.126763448_126763452dup, NC_000005.10:g.126763444_126763452dup, NC_000005.9:g.126099132_126099144del, NC_000005.9:g.126099133_126099144del, NC_000005.9:g.126099134_126099144del, NC_000005.9:g.126099135_126099144del, NC_000005.9:g.126099136_126099144del, NC_000005.9:g.126099137_126099144del, NC_000005.9:g.126099139_126099144del, NC_000005.9:g.126099140_126099144del, NC_000005.9:g.126099141_126099144del, NC_000005.9:g.126099142_126099144del, NC_000005.9:g.126099143_126099144del, NC_000005.9:g.126099144del, NC_000005.9:g.126099144dup, NC_000005.9:g.126099143_126099144dup, NC_000005.9:g.126099142_126099144dup, NC_000005.9:g.126099141_126099144dup, NC_000005.9:g.126099140_126099144dup, NC_000005.9:g.126099136_126099144dup
10.
rs1491063549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:126772637
(GRCh38)
5:126108329
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126772635:TAT:T
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00329/39
(
ALFA)
-=0.00043/12
(TOMMO)
- HGVS:
11.
rs1491059750 has merged into rs10629740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:126754015
(GRCh38)
5:126089707
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:126754003:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4048/2027
(1000Genomes)
- HGVS:
NC_000005.10:g.126754015_126754023del, NC_000005.10:g.126754016_126754023del, NC_000005.10:g.126754017_126754023del, NC_000005.10:g.126754019_126754023del, NC_000005.10:g.126754020_126754023del, NC_000005.10:g.126754021_126754023del, NC_000005.10:g.126754022_126754023del, NC_000005.10:g.126754023del, NC_000005.10:g.126754023dup, NC_000005.10:g.126754022_126754023dup, NC_000005.10:g.126754021_126754023dup, NC_000005.10:g.126754020_126754023dup, NC_000005.10:g.126754019_126754023dup, NC_000005.10:g.126754017_126754023dup, NC_000005.10:g.126754015_126754023dup, NC_000005.9:g.126089707_126089715del, NC_000005.9:g.126089708_126089715del, NC_000005.9:g.126089709_126089715del, NC_000005.9:g.126089711_126089715del, NC_000005.9:g.126089712_126089715del, NC_000005.9:g.126089713_126089715del, NC_000005.9:g.126089714_126089715del, NC_000005.9:g.126089715del, NC_000005.9:g.126089715dup, NC_000005.9:g.126089714_126089715dup, NC_000005.9:g.126089713_126089715dup, NC_000005.9:g.126089712_126089715dup, NC_000005.9:g.126089711_126089715dup, NC_000005.9:g.126089709_126089715dup, NC_000005.9:g.126089707_126089715dup
12.
rs1491017267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:126774328
(GRCh38)
5:126110020
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126774326:TGT:T
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000843/10
(
ALFA)
-=0.000307/36
(GnomAD)
- HGVS:
14.
rs1490845521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:126754192
(GRCh38)
5:126089884
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126754191:G:A
- Gene:
- LMNB1-DT (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:
15.
rs1490722183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:126760439
(GRCh38)
5:126096131
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126760438:CCC:CC
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490610593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:126774702
(GRCh38)
5:126110394
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126774701:T:C
- Gene:
- LMNB1 (Varview), LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1490514178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:126773222
(GRCh38)
5:126108914
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126773221:C:G,NC_000005.10:126773221:C:T
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490265626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:126767781
(GRCh38)
5:126103473
(GRCh37)
- Canonical SPDI:
- NC_000005.10:126767780:A:C
- Gene:
- LMNB1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS: