Links from Gene
Items: 1 to 20 of 40293
1.
rs1491576674 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:74072490
(GRCh38)
1:74538174
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74072489:CA:
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS:
2.
rs1491565341 has merged into rs79538213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:74174566
(GRCh38)
1:74640250
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74174564:TGT:T
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000675/11
(
ALFA)
-=0.000146/18
(GnomAD)
- HGVS:
4.
rs1491513793 has merged into rs1387333088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT
[Show Flanks]
- Chromosome:
- 1:74139092
(GRCh38)
1:74604776
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGT,NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGTGT,NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TG=0.000106/2
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
5.
rs1491469364 has merged into rs71588822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 1:74138172
(GRCh38)
1:74603856
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.74138172_74138175del, NC_000001.11:g.74138173_74138175del, NC_000001.11:g.74138174_74138175del, NC_000001.11:g.74138175del, NC_000001.11:g.74138175dup, NC_000001.11:g.74138174_74138175dup, NC_000001.10:g.74603856_74603859del, NC_000001.10:g.74603857_74603859del, NC_000001.10:g.74603858_74603859del, NC_000001.10:g.74603859del, NC_000001.10:g.74603859dup, NC_000001.10:g.74603858_74603859dup
6.
rs1491457185 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:74116040
(GRCh38)
1:74581724
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74116038:TCT:T
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000057/8
(GnomAD)
-=0.000098/26
(TOPMED)
- HGVS:
7.
rs1491447553 has merged into rs796862229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAAAACAAAA>-,CAAAA,CAAAACAAAACAAAA
[Show Flanks]
- Chromosome:
- 1:74063099
(GRCh38)
1:74528783
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAA,NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAACAAAA,NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAACAAAACAAAACAAAA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAAACAAAACAAAACAAAA=0./0
(
ALFA)
CAAAA=0.00007/2
(TOMMO)
-=0.00109/7
(1000Genomes)
- HGVS:
8.
rs1491436833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 1:74139085
(GRCh38)
1:74604770
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74139085:G:GGG
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0.000184/3
(
ALFA)
GG=0.000101/13
(GnomAD)
- HGVS:
9.
rs1491378413 has merged into rs753297722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 1:74073624
(GRCh38)
1:74539308
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.00022/3
(TOMMO)
- HGVS:
10.
rs1491342858 has merged into rs61216155 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:74085333
(GRCh38)
1:74551017
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0735/368
(1000Genomes)
- HGVS:
NC_000001.11:g.74085333_74085340del, NC_000001.11:g.74085335_74085340del, NC_000001.11:g.74085337_74085340del, NC_000001.11:g.74085338_74085340del, NC_000001.11:g.74085339_74085340del, NC_000001.11:g.74085340del, NC_000001.11:g.74085340dup, NC_000001.11:g.74085331_74085340dup, NC_000001.11:g.74085327_74085340dup, NC_000001.11:g.74085325_74085340dup, NC_000001.11:g.74085340_74085341insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.74551017_74551024del, NC_000001.10:g.74551019_74551024del, NC_000001.10:g.74551021_74551024del, NC_000001.10:g.74551022_74551024del, NC_000001.10:g.74551023_74551024del, NC_000001.10:g.74551024del, NC_000001.10:g.74551024dup, NC_000001.10:g.74551015_74551024dup, NC_000001.10:g.74551011_74551024dup, NC_000001.10:g.74551009_74551024dup, NC_000001.10:g.74551024_74551025insAAAAAAAAAAAAAAAAAAA
11.
rs1491301998 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:74073611
(GRCh38)
1:74539296
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74073611::T
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000033/1
(GnomAD)
- HGVS:
12.
rs1491294826 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:74174565
(GRCh38)
1:74640250
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74174565::C
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000018/2
(GnomAD)
- HGVS:
13.
rs1491283137 has merged into rs143015235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:74054754
(GRCh38)
1:74520438
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000001.11:g.74054740AT[7], NC_000001.11:g.74054740AT[8], NC_000001.11:g.74054740AT[10], NC_000001.11:g.74054740AT[11], NC_000001.11:g.74054740AT[12], NC_000001.11:g.74054740AT[13], NC_000001.11:g.74054740AT[14], NC_000001.11:g.74054740AT[15], NC_000001.11:g.74054740AT[16], NC_000001.11:g.74054740AT[17], NC_000001.11:g.74054740AT[18], NC_000001.11:g.74054740AT[19], NC_000001.11:g.74054740AT[20], NC_000001.10:g.74520424AT[7], NC_000001.10:g.74520424AT[8], NC_000001.10:g.74520424AT[10], NC_000001.10:g.74520424AT[11], NC_000001.10:g.74520424AT[12], NC_000001.10:g.74520424AT[13], NC_000001.10:g.74520424AT[14], NC_000001.10:g.74520424AT[15], NC_000001.10:g.74520424AT[16], NC_000001.10:g.74520424AT[17], NC_000001.10:g.74520424AT[18], NC_000001.10:g.74520424AT[19], NC_000001.10:g.74520424AT[20]
14.
rs1491233534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACA,TATACA,TATATACA,TATATATACA,TATATATATACA
[Show Flanks]
- Chromosome:
- 1:74055211
(GRCh38)
1:74520896
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74055211:A:ATACA,NC_000001.11:74055211:A:ATATACA,NC_000001.11:74055211:A:ATATATACA,NC_000001.11:74055211:A:ATATATATACA,NC_000001.11:74055211:A:ATATATATATACA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
15.
rs1491210643 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 1:74063083
(GRCh38)
1:74528767
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74063082:TC:
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.004698/21
(
ALFA)
-=0.00064/11
(TOMMO)
-=0.001066/149
(GnomAD)
-=0.005/3
(NorthernSweden)
- HGVS:
16.
rs1491144914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:74049925
(GRCh38)
1:74515609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74049923:TCT:T
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
17.
rs1491126084 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AACT
[Show Flanks]
- Chromosome:
- 1:74116039
(GRCh38)
1:74581724
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74116039:CT:CTAACT
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTAACT=0.000071/1
(
ALFA)
CTAA=0.000029/4
(GnomAD)
CTAA=0.000045/12
(TOPMED)
- HGVS:
18.
rs1491106400 has merged into rs112600827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 1:74054758
(GRCh38)
1:74520442
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74054756:TCT:T,NC_000001.11:74054756:TCT:TCTCT
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01234/188
(
ALFA)
-=0.02877/482
(TOMMO)
-=0.04207/156
(TWINSUK)
-=0.045/27
(NorthernSweden)
-=0.05345/206
(ALSPAC)
-=0.13712/246
(Korea1K)
- HGVS:
19.
rs1491088016 has merged into rs71772871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:74066201
(GRCh38)
1:74531885
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0867/334
(ALSPAC)
A=0.2/8
(GENOME_DK)
A=0.4483/2245
(1000Genomes)
- HGVS:
NC_000001.11:g.74066201_74066204del, NC_000001.11:g.74066202_74066204del, NC_000001.11:g.74066203_74066204del, NC_000001.11:g.74066204del, NC_000001.11:g.74066204dup, NC_000001.11:g.74066203_74066204dup, NC_000001.11:g.74066201_74066204dup, NC_000001.11:g.74066200_74066204dup, NC_000001.11:g.74066198_74066204dup, NC_000001.11:g.74066190_74066204dup, NC_000001.11:g.74066204_74066205insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.74531885_74531888del, NC_000001.10:g.74531886_74531888del, NC_000001.10:g.74531887_74531888del, NC_000001.10:g.74531888del, NC_000001.10:g.74531888dup, NC_000001.10:g.74531887_74531888dup, NC_000001.10:g.74531885_74531888dup, NC_000001.10:g.74531884_74531888dup, NC_000001.10:g.74531882_74531888dup, NC_000001.10:g.74531874_74531888dup, NC_000001.10:g.74531888_74531889insAAAAAAAAAAAAAAAAAAAAAAAAA
20.
rs1491084228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:74139128
(GRCh38)
1:74604813
(GRCh37)
- Canonical SPDI:
- NC_000001.11:74139128:T:TT
- Gene:
- LRRIQ3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000188/1
(GnomAD)
- HGVS: