Links from Gene
Items: 1 to 20 of 13047
1.
rs1491364255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 3:3800140
(GRCh38)
3:3841825
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3800140:A:ACA
- Gene:
- LRRN1 (Varview), LOC100130207 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
AC=0.0001/1
(GnomAD)
- HGVS:
3.
rs1491270250 has merged into rs5846290 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:3800149
(GRCh38)
3:3841833
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:3800139:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- LRRN1 (Varview), LOC100130207 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0642/24
(NorthernSweden)
-=0.0893/344
(ALSPAC)
-=0.2843/1424
(1000Genomes)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000003.12:g.3800149_3800156del, NC_000003.12:g.3800152_3800156del, NC_000003.12:g.3800153_3800156del, NC_000003.12:g.3800154_3800156del, NC_000003.12:g.3800155_3800156del, NC_000003.12:g.3800156del, NC_000003.12:g.3800156dup, NC_000003.12:g.3800155_3800156dup, NC_000003.12:g.3800154_3800156dup, NC_000003.12:g.3800153_3800156dup, NC_000003.11:g.3841833_3841840del, NC_000003.11:g.3841836_3841840del, NC_000003.11:g.3841837_3841840del, NC_000003.11:g.3841838_3841840del, NC_000003.11:g.3841839_3841840del, NC_000003.11:g.3841840del, NC_000003.11:g.3841840dup, NC_000003.11:g.3841839_3841840dup, NC_000003.11:g.3841838_3841840dup, NC_000003.11:g.3841837_3841840dup
4.
rs1491086724 has merged into rs35514612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC
[Show Flanks]
- Chromosome:
- 3:3837340
(GRCh38)
3:3879024
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3837332:CCCCCCCCC:CCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:3837332:CCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0./0
(
ALFA)
C=0.075/3
(GENOME_DK)
C=0.1133/68
(NorthernSweden)
C=0.1154/517
(Estonian)
C=0.1292/498
(ALSPAC)
C=0.1297/481
(TWINSUK)
C=0.1635/791
(1000Genomes)
- HGVS:
NC_000003.12:g.3837340_3837341del, NC_000003.12:g.3837341del, NC_000003.12:g.3837341dup, NC_000003.12:g.3837340_3837341dup, NC_000003.12:g.3837338_3837341dup, NC_000003.12:g.3837337_3837341dup, NC_000003.12:g.3837336_3837341dup, NC_000003.11:g.3879024_3879025del, NC_000003.11:g.3879025del, NC_000003.11:g.3879025dup, NC_000003.11:g.3879024_3879025dup, NC_000003.11:g.3879022_3879025dup, NC_000003.11:g.3879021_3879025dup, NC_000003.11:g.3879020_3879025dup
5.
rs1491009054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:3812834
(GRCh38)
3:3854518
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3812832:AGA:A
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490981380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:3807734
(GRCh38)
3:3849418
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3807733:A:G
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
7.
rs1490915483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:3842906
(GRCh38)
3:3884590
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3842905:G:A
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490912817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:3817936
(GRCh38)
3:3859620
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3817935:A:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000462/7
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000064/9
(GnomAD)
C=0.001563/7
(Estonian)
- HGVS:
10.
rs1490773655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:3836023
(GRCh38)
3:3877707
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3836022:A:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490697107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:3835075
(GRCh38)
3:3876759
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3835074:A:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490657500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:3849982
(GRCh38)
3:3891666
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3849981:G:A
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
13.
rs1490622131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:3829487
(GRCh38)
3:3871171
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3829486:T:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490493111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:3808176
(GRCh38)
3:3849860
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3808175:A:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490436613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:3807229
(GRCh38)
3:3848913
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3807228:T:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490423038 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:3816957
(GRCh38)
3:3858641
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3816956:TT:T
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000021/3
(GnomAD)
- HGVS:
18.
rs1490260266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:3822785
(GRCh38)
3:3864469
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3822784:G:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490220493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:3835409
(GRCh38)
3:3877093
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3835404:GTGTGT:GTGT
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490109564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:3828980
(GRCh38)
3:3870664
(GRCh37)
- Canonical SPDI:
- NC_000003.12:3828979:T:C
- Gene:
- LRRN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000016/2
(GnomAD)
- HGVS: