Links from Gene
Items: 1 to 20 of 1000
2.
rs1491454364 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:97144067
(GRCh38)
5:96479771
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97144066:CT:
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
3.
rs1491442172 has merged into rs140818193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:97144082
(GRCh38)
5:96479786
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.01171/7
(NorthernSweden)
T=0.25/2
(KOREAN)
- HGVS:
NC_000005.10:g.97144082_97144085del, NC_000005.10:g.97144083_97144085del, NC_000005.10:g.97144084_97144085del, NC_000005.10:g.97144085del, NC_000005.10:g.97144085dup, NC_000005.10:g.97144084_97144085dup, NC_000005.10:g.97144083_97144085dup, NC_000005.10:g.97144082_97144085dup, NC_000005.10:g.97144080_97144085dup, NC_000005.10:g.97144079_97144085dup, NC_000005.10:g.97144078_97144085dup, NC_000005.10:g.97144077_97144085dup, NC_000005.10:g.97144076_97144085dup, NC_000005.10:g.97144075_97144085dup, NC_000005.10:g.97144074_97144085dup, NC_000005.10:g.97144073_97144085dup, NC_000005.10:g.97144072_97144085dup, NC_000005.10:g.97144085_97144086insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.96479786_96479789del, NC_000005.9:g.96479787_96479789del, NC_000005.9:g.96479788_96479789del, NC_000005.9:g.96479789del, NC_000005.9:g.96479789dup, NC_000005.9:g.96479788_96479789dup, NC_000005.9:g.96479787_96479789dup, NC_000005.9:g.96479786_96479789dup, NC_000005.9:g.96479784_96479789dup, NC_000005.9:g.96479783_96479789dup, NC_000005.9:g.96479782_96479789dup, NC_000005.9:g.96479781_96479789dup, NC_000005.9:g.96479780_96479789dup, NC_000005.9:g.96479779_96479789dup, NC_000005.9:g.96479778_96479789dup, NC_000005.9:g.96479777_96479789dup, NC_000005.9:g.96479776_96479789dup, NC_000005.9:g.96479789_96479790insTTTTTTTTTTTTTTTTTTTTT
4.
rs1491229851 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:97115772
(GRCh38)
5:96451476
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97115770:AGA:A
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1491151694 has merged into rs3041175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 5:97117933
(GRCh38)
5:96453637
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.3288/194
(NorthernSweden)
AA=0.4974/2491
(1000Genomes)
- HGVS:
NC_000005.10:g.97117933_97117936del, NC_000005.10:g.97117934_97117936del, NC_000005.10:g.97117935_97117936del, NC_000005.10:g.97117936del, NC_000005.10:g.97117936dup, NC_000005.10:g.97117935_97117936dup, NC_000005.9:g.96453637_96453640del, NC_000005.9:g.96453638_96453640del, NC_000005.9:g.96453639_96453640del, NC_000005.9:g.96453640del, NC_000005.9:g.96453640dup, NC_000005.9:g.96453639_96453640dup
6.
rs1491086883 has merged into rs140818193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:97144082
(GRCh38)
5:96479786
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.01171/7
(NorthernSweden)
T=0.25/2
(KOREAN)
- HGVS:
NC_000005.10:g.97144082_97144085del, NC_000005.10:g.97144083_97144085del, NC_000005.10:g.97144084_97144085del, NC_000005.10:g.97144085del, NC_000005.10:g.97144085dup, NC_000005.10:g.97144084_97144085dup, NC_000005.10:g.97144083_97144085dup, NC_000005.10:g.97144082_97144085dup, NC_000005.10:g.97144080_97144085dup, NC_000005.10:g.97144079_97144085dup, NC_000005.10:g.97144078_97144085dup, NC_000005.10:g.97144077_97144085dup, NC_000005.10:g.97144076_97144085dup, NC_000005.10:g.97144075_97144085dup, NC_000005.10:g.97144074_97144085dup, NC_000005.10:g.97144073_97144085dup, NC_000005.10:g.97144072_97144085dup, NC_000005.10:g.97144085_97144086insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.96479786_96479789del, NC_000005.9:g.96479787_96479789del, NC_000005.9:g.96479788_96479789del, NC_000005.9:g.96479789del, NC_000005.9:g.96479789dup, NC_000005.9:g.96479788_96479789dup, NC_000005.9:g.96479787_96479789dup, NC_000005.9:g.96479786_96479789dup, NC_000005.9:g.96479784_96479789dup, NC_000005.9:g.96479783_96479789dup, NC_000005.9:g.96479782_96479789dup, NC_000005.9:g.96479781_96479789dup, NC_000005.9:g.96479780_96479789dup, NC_000005.9:g.96479779_96479789dup, NC_000005.9:g.96479778_96479789dup, NC_000005.9:g.96479777_96479789dup, NC_000005.9:g.96479776_96479789dup, NC_000005.9:g.96479789_96479790insTTTTTTTTTTTTTTTTTTTTT
7.
rs1490967115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:97093865
(GRCh38)
5:96429569
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97093864:G:A
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490894414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:97119337
(GRCh38)
5:96455041
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97119336:T:G
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490837259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:97128258
(GRCh38)
5:96463962
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97128257:T:A
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490808881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:97111899
(GRCh38)
5:96447603
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97111898:C:A
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490773391 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 5:97110753
(GRCh38)
5:96446458
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97110753:TTTT:TTTTT
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490673824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 5:97128780
(GRCh38)
5:96464484
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97128779:A:C,NC_000005.10:97128779:A:G
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
G=0.000672/11
(TOMMO)
- HGVS:
13.
rs1490610389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:97111304
(GRCh38)
5:96447008
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97111303:A:T
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490597027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:97142505
(GRCh38)
5:96478209
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97142504:G:T
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000012/3
(GnomAD_exomes)
- HGVS:
15.
rs1490541586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTCT>-
[Show Flanks]
- Chromosome:
- 5:97129702
(GRCh38)
5:96465406
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97129699:CTGTCT:CT
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
16.
rs1490440124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:97120638
(GRCh38)
5:96456342
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97120637:G:A
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490403741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:97093947
(GRCh38)
5:96429651
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97093946:G:C
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490343674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:97141013
(GRCh38)
5:96476717
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97141012:T:G
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000049/13
(TOPMED)
- HGVS:
19.
rs1490303332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:97137964
(GRCh38)
5:96473668
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97137963:C:G
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490264756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:97095918
(GRCh38)
5:96431622
(GRCh37)
- Canonical SPDI:
- NC_000005.10:97095917:A:G
- Gene:
- LIX1 (Varview), LIX1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: