Links from Gene
Items: 1 to 20 of 1000
1.
rs1491539048 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:33891346
(GRCh38)
11:33912893
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33891344:AAA:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00021/19
(GnomAD)
-=0.00031/2
(1000Genomes)
- HGVS:
2.
rs1491489101 has merged into rs398015741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:33877469
(GRCh38)
11:33899015
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33877461:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.33877469_33877482del, NC_000011.10:g.33877473_33877482del, NC_000011.10:g.33877475_33877482del, NC_000011.10:g.33877477_33877482del, NC_000011.10:g.33877478_33877482del, NC_000011.10:g.33877481_33877482del, NC_000011.10:g.33877482del, NC_000011.10:g.33877482dup, NC_000011.10:g.33877481_33877482dup, NC_000011.10:g.33877480_33877482dup, NC_000011.10:g.33877479_33877482dup, NC_000011.10:g.33877478_33877482dup, NC_000011.10:g.33877477_33877482dup, NC_000011.10:g.33877476_33877482dup, NC_000011.10:g.33877475_33877482dup, NC_000011.10:g.33877473_33877482dup, NC_000011.10:g.33877472_33877482dup, NC_000011.10:g.33877482_33877483insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.33877482_33877483insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.33899015_33899028del, NC_000011.9:g.33899019_33899028del, NC_000011.9:g.33899021_33899028del, NC_000011.9:g.33899023_33899028del, NC_000011.9:g.33899024_33899028del, NC_000011.9:g.33899027_33899028del, NC_000011.9:g.33899028del, NC_000011.9:g.33899028dup, NC_000011.9:g.33899027_33899028dup, NC_000011.9:g.33899026_33899028dup, NC_000011.9:g.33899025_33899028dup, NC_000011.9:g.33899024_33899028dup, NC_000011.9:g.33899023_33899028dup, NC_000011.9:g.33899022_33899028dup, NC_000011.9:g.33899021_33899028dup, NC_000011.9:g.33899019_33899028dup, NC_000011.9:g.33899018_33899028dup, NC_000011.9:g.33899028_33899029insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.33899028_33899029insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491214196 has merged into rs767893617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 11:33880235
(GRCh38)
11:33901781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33880228:ATATATATAT:ATATAT,NC_000011.10:33880228:ATATATATAT:ATATATAT,NC_000011.10:33880228:ATATATATAT:ATATATATATAT,NC_000011.10:33880228:ATATATATAT:ATATATATATATAT
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
-=0.00187/12
(1000Genomes)
- HGVS:
6.
rs1491082833 has merged into rs201634582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT,ATATATAT,ATATCATATATACACATGATATATATATAT,ATATCATATATACACATGATATATATATCATATATACACATGATATATATATAT
[Show Flanks]
- Chromosome:
- 11:33880189
(GRCh38)
11:33901735
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33880180:ATATATATAT:ATATATAT,NC_000011.10:33880180:ATATATATAT:ATATATATATAT,NC_000011.10:33880180:ATATATATAT:ATATATATATATAT,NC_000011.10:33880180:ATATATATAT:ATATATATATATATAT,NC_000011.10:33880180:ATATATATAT:ATATATATATATCATATATACACATGATATATATATAT,NC_000011.10:33880180:ATATATATAT:ATATATATATATCATATATACACATGATATATATATCATATATACACATGATATATATATAT
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.00893/1
(Vietnamese)
-=0.01838/212
(TOMMO)
-=0.02147/24
(Korea1K)
-=0.42672/2137
(1000Genomes)
- HGVS:
NC_000011.10:g.33880181AT[4], NC_000011.10:g.33880181AT[6], NC_000011.10:g.33880181AT[7], NC_000011.10:g.33880181AT[8], NC_000011.10:g.33880181_33880190AT[6]CATATATACACATGATATATATATAT[1], NC_000011.10:g.33880181_33880190AT[6]CATATATACACATGATATATATAT[2]AT[1], NC_000011.9:g.33901727AT[4], NC_000011.9:g.33901727AT[6], NC_000011.9:g.33901727AT[7], NC_000011.9:g.33901727AT[8], NC_000011.9:g.33901727_33901736AT[6]CATATATACACATGATATATATATAT[1], NC_000011.9:g.33901727_33901736AT[6]CATATATACACATGATATATATAT[2]AT[1]
7.
rs1491061930 has merged into rs71037312 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:33875591
(GRCh38)
11:33897137
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33875578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2935/1470
(1000Genomes)
- HGVS:
NC_000011.10:g.33875591_33875597del, NC_000011.10:g.33875593_33875597del, NC_000011.10:g.33875594_33875597del, NC_000011.10:g.33875596_33875597del, NC_000011.10:g.33875597del, NC_000011.10:g.33875597dup, NC_000011.10:g.33875596_33875597dup, NC_000011.10:g.33875595_33875597dup, NC_000011.10:g.33875594_33875597dup, NC_000011.10:g.33875592_33875597dup, NC_000011.9:g.33897137_33897143del, NC_000011.9:g.33897139_33897143del, NC_000011.9:g.33897140_33897143del, NC_000011.9:g.33897142_33897143del, NC_000011.9:g.33897143del, NC_000011.9:g.33897143dup, NC_000011.9:g.33897142_33897143dup, NC_000011.9:g.33897141_33897143dup, NC_000011.9:g.33897140_33897143dup, NC_000011.9:g.33897138_33897143dup
8.
rs1491014492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 11:33871241
(GRCh38)
11:33892788
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33871241:T:TAT
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
TA=0.000008/1
(GnomAD)
- HGVS:
9.
rs1490689511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:33869832
(GRCh38)
11:33891378
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33869831:C:G
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490546225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:33871018
(GRCh38)
11:33892564
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33871017:T:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490532431 has merged into rs10608793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:33870078
(GRCh38)
11:33891624
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:33870070:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.33870078_33870089del, NC_000011.10:g.33870083_33870089del, NC_000011.10:g.33870084_33870089del, NC_000011.10:g.33870085_33870089del, NC_000011.10:g.33870086_33870089del, NC_000011.10:g.33870087_33870089del, NC_000011.10:g.33870088_33870089del, NC_000011.10:g.33870089del, NC_000011.10:g.33870089dup, NC_000011.10:g.33870088_33870089dup, NC_000011.10:g.33870087_33870089dup, NC_000011.10:g.33870086_33870089dup, NC_000011.9:g.33891624_33891635del, NC_000011.9:g.33891629_33891635del, NC_000011.9:g.33891630_33891635del, NC_000011.9:g.33891631_33891635del, NC_000011.9:g.33891632_33891635del, NC_000011.9:g.33891633_33891635del, NC_000011.9:g.33891634_33891635del, NC_000011.9:g.33891635del, NC_000011.9:g.33891635dup, NC_000011.9:g.33891634_33891635dup, NC_000011.9:g.33891633_33891635dup, NC_000011.9:g.33891632_33891635dup
12.
rs1490502284 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:33876946
(GRCh38)
11:33898492
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33876945:AA:
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
13.
rs1490486230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33862392
(GRCh38)
11:33883938
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33862391:C:T
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490363245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:33859674
(GRCh38)
11:33881220
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33859673:G:C
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490290034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33869101
(GRCh38)
11:33890647
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33869100:G:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490070383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:33859716
(GRCh38)
11:33881262
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33859715:G:A,NC_000011.10:33859715:G:C
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
17.
rs1489998675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33861992
(GRCh38)
11:33883538
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33861991:G:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489859179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:33879657
(GRCh38)
11:33901203
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33879656:T:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489855196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33864661
(GRCh38)
11:33886207
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33864660:C:T
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
NC_000011.10:g.33864661C>T, NC_000011.9:g.33886207C>T, NM_005574.4:c.405G>A, NM_005574.3:c.405G>A, XM_017017733.2:c.198G>A, XM_017017733.1:c.198G>A, NM_001142316.2:c.198G>A, NM_001142316.1:c.198G>A, NM_001142315.2:c.198G>A, NM_001142315.1:c.198G>A, XM_047426944.1:c.405G>A, XM_047426945.1:c.198G>A, XM_047426946.1:c.198G>A
20.
rs1489833505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33877147
(GRCh38)
11:33898693
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33877146:G:A
- Gene:
- LMO2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: