Links from Gene
Items: 1 to 20 of 1000
1.
rs1491567515 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:159093039
(GRCh38)
1:159062830
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159093039::T
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000937/6
(1000Genomes)
T=0.001539/155
(GnomAD)
- HGVS:
2.
rs1491454720 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:159107298
(GRCh38)
1:159077088
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159107297:AT:
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491290096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:159084816
(GRCh38)
1:159054606
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159084814:ATA:A
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000169/2
(
ALFA)
-=0.000284/5
(TOMMO)
-=0.00042/54
(GnomAD)
- HGVS:
4.
rs1491242235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 1:159107298
(GRCh38)
1:159077089
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159107298:TGTGTGT:TGTGTGTGT
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGT=0./0
(
ALFA)
TG=0.000035/1
(TOMMO)
TG=0.000065/9
(GnomAD)
- HGVS:
5.
rs1491204680 has merged into rs71659252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 1:159112948
(GRCh38)
1:159082738
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:159112934:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATA=0./0
(
ALFA)
AT=0.13158/5
(GENOME_DK)
- HGVS:
NC_000001.11:g.159112936TA[6], NC_000001.11:g.159112936TA[7], NC_000001.11:g.159112936TA[9], NC_000001.11:g.159112936TA[10], NC_000001.11:g.159112936TA[11], NC_000001.11:g.159112936TA[12], NC_000001.11:g.159112936TA[13], NC_000001.11:g.159112936TA[14], NC_000001.11:g.159112936TA[15], NC_000001.11:g.159112936TA[16], NC_000001.11:g.159112936TA[17], NC_000001.11:g.159112936TA[18], NC_000001.11:g.159112936TA[19], NC_000001.11:g.159112936TA[20], NC_000001.11:g.159112936TA[21], NC_000001.11:g.159112936TA[22], NC_000001.10:g.159082726TA[6], NC_000001.10:g.159082726TA[7], NC_000001.10:g.159082726TA[9], NC_000001.10:g.159082726TA[10], NC_000001.10:g.159082726TA[11], NC_000001.10:g.159082726TA[12], NC_000001.10:g.159082726TA[13], NC_000001.10:g.159082726TA[14], NC_000001.10:g.159082726TA[15], NC_000001.10:g.159082726TA[16], NC_000001.10:g.159082726TA[17], NC_000001.10:g.159082726TA[18], NC_000001.10:g.159082726TA[19], NC_000001.10:g.159082726TA[20], NC_000001.10:g.159082726TA[21], NC_000001.10:g.159082726TA[22]
6.
rs1491198522 has merged into rs1553219122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- 1:159107336
(GRCh38)
1:159077126
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159107331:GCGCGC:GCGC,NC_000001.11:159107331:GCGCGC:GCGCGCGC
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGCGC=0.000112/2
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.005238/88
(TOMMO)
-=0.020197/37
(Korea1K)
- HGVS:
7.
rs1491136598 has merged into rs531843702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 1:159062705
(GRCh38)
1:159032495
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159062696:TTTTTTTTTT:TTTTTTTT,NC_000001.11:159062696:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:159062696:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:159062696:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.01006/276
(
ALFA)
-=0.00156/7
(Estonian)
-=0.00566/28
(1000Genomes)
-=0.00802/8
(GoNL)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000001.11:g.159062705_159062706del, NC_000001.11:g.159062706del, NC_000001.11:g.159062706dup, NC_000001.11:g.159062705_159062706dup, NC_000001.10:g.159032495_159032496del, NC_000001.10:g.159032496del, NC_000001.10:g.159032496dup, NC_000001.10:g.159032495_159032496dup, XR_001737547.3:n.898_899del, XR_001737547.3:n.899del, XR_001737547.3:n.899dup, XR_001737547.3:n.898_899dup, XR_001737547.2:n.1044_1045del, XR_001737547.2:n.1045del, XR_001737547.2:n.1045dup, XR_001737547.2:n.1044_1045dup, XR_001737547.1:n.1042_1043del, XR_001737547.1:n.1043del, XR_001737547.1:n.1043dup, XR_001737547.1:n.1042_1043dup, NM_004833.3:c.1026_1027del, NM_004833.3:c.1027del, NM_004833.3:c.1027dup, NM_004833.3:c.1026_1027dup, NM_004833.2:c.1026_1027del, NM_004833.2:c.1027del, NM_004833.2:c.1027dup, NM_004833.2:c.1026_1027dup, NM_004833.1:c.1026_1027del, NM_004833.1:c.1027del, NM_004833.1:c.1027dup, NM_004833.1:c.1026_1027dup, XR_001737544.2:n.1180_1181del, XR_001737544.2:n.1181del, XR_001737544.2:n.1181dup, XR_001737544.2:n.1180_1181dup, XR_001737544.1:n.1180_1181del, XR_001737544.1:n.1181del, XR_001737544.1:n.1181dup, XR_001737544.1:n.1180_1181dup, NM_001348247.2:c.711_712del, NM_001348247.2:c.712del, NM_001348247.2:c.712dup, NM_001348247.2:c.711_712dup, NM_001348247.1:c.711_712del, NM_001348247.1:c.712del, NM_001348247.1:c.712dup, NM_001348247.1:c.711_712dup, XR_007064924.1:n.1587_1588del, XR_007064924.1:n.1588del, XR_007064924.1:n.1588dup, XR_007064924.1:n.1587_1588dup, XM_047434811.1:c.1026_1027del, XM_047434811.1:c.1027del, XM_047434811.1:c.1027dup, XM_047434811.1:c.1026_1027dup, XM_047434809.1:c.1026_1027del, XM_047434809.1:c.1027del, XM_047434809.1:c.1027dup, XM_047434809.1:c.1026_1027dup, XM_047434808.1:c.1026_1027del, XM_047434808.1:c.1027del, XM_047434808.1:c.1027dup, XM_047434808.1:c.1026_1027dup, NP_004824.1:p.Lys342fs, NP_004824.1:p.Thr343fs, NP_004824.1:p.Thr343fs, NP_004824.1:p.Thr343fs, NP_001335176.1:p.Lys237fs, NP_001335176.1:p.Thr238fs, NP_001335176.1:p.Thr238fs, NP_001335176.1:p.Thr238fs, XP_047290767.1:p.Lys342fs, XP_047290767.1:p.Thr343fs, XP_047290767.1:p.Thr343fs, XP_047290767.1:p.Thr343fs, XP_047290765.1:p.Lys342fs, XP_047290765.1:p.Thr343fs, XP_047290765.1:p.Thr343fs, XP_047290765.1:p.Thr343fs, XP_047290764.1:p.Lys342fs, XP_047290764.1:p.Thr343fs, XP_047290764.1:p.Thr343fs, XP_047290764.1:p.Thr343fs
8.
rs1491067197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- 1:159084830
(GRCh38)
1:159054620
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159084820:ACACACACACACA:ACACACACA,NC_000001.11:159084820:ACACACACACACA:ACACACACACA,NC_000001.11:159084820:ACACACACACACA:ACACACACACACACA
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000106/2
(TOMMO)
AC=0.008573/471
(GnomAD)
- HGVS:
9.
rs1491044666 has merged into rs35354479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:159126661
(GRCh38)
1:159096451
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:159126648:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4633/2320
(1000Genomes)
- HGVS:
NC_000001.11:g.159126661_159126667del, NC_000001.11:g.159126662_159126667del, NC_000001.11:g.159126663_159126667del, NC_000001.11:g.159126664_159126667del, NC_000001.11:g.159126665_159126667del, NC_000001.11:g.159126666_159126667del, NC_000001.11:g.159126667del, NC_000001.11:g.159126667dup, NC_000001.11:g.159126666_159126667dup, NC_000001.11:g.159126665_159126667dup, NC_000001.11:g.159126664_159126667dup, NC_000001.11:g.159126663_159126667dup, NC_000001.11:g.159126658_159126667dup, NC_000001.10:g.159096451_159096457del, NC_000001.10:g.159096452_159096457del, NC_000001.10:g.159096453_159096457del, NC_000001.10:g.159096454_159096457del, NC_000001.10:g.159096455_159096457del, NC_000001.10:g.159096456_159096457del, NC_000001.10:g.159096457del, NC_000001.10:g.159096457dup, NC_000001.10:g.159096456_159096457dup, NC_000001.10:g.159096455_159096457dup, NC_000001.10:g.159096454_159096457dup, NC_000001.10:g.159096453_159096457dup, NC_000001.10:g.159096448_159096457dup
10.
rs1490994053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:159104857
(GRCh38)
1:159074647
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159104856:G:A,NC_000001.11:159104856:G:C
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490899995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:159087031
(GRCh38)
1:159056821
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159087030:C:A
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490861146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:159103921
(GRCh38)
1:159073711
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159103920:C:T
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490850588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:159131230
(GRCh38)
1:159101020
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159131229:A:G,NC_000001.11:159131229:A:T
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490842488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:159088005
(GRCh38)
1:159057795
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159088004:G:A
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490770047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:159114070
(GRCh38)
1:159083860
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159114069:G:A,NC_000001.11:159114069:G:C
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490694768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:159076164
(GRCh38)
1:159045954
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159076163:C:T
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490667948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:159094327
(GRCh38)
1:159064117
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159094326:G:C
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490666430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:159059120
(GRCh38)
1:159028910
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159059119:T:A,NC_000001.11:159059119:T:C
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490653106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:159096762
(GRCh38)
1:159066552
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159096761:G:A
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490582341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:159111492
(GRCh38)
1:159081282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159111491:T:C
- Gene:
- AIM2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: