Links from Gene
Items: 1 to 20 of 3127
2.
rs1491226356 has merged into rs55696344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:73928613
(GRCh38)
15:74220954
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73928601:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAA=0.0302/151
(1000Genomes)
- HGVS:
NC_000015.10:g.73928613_73928625del, NC_000015.10:g.73928614_73928625del, NC_000015.10:g.73928615_73928625del, NC_000015.10:g.73928616_73928625del, NC_000015.10:g.73928617_73928625del, NC_000015.10:g.73928618_73928625del, NC_000015.10:g.73928619_73928625del, NC_000015.10:g.73928620_73928625del, NC_000015.10:g.73928621_73928625del, NC_000015.10:g.73928622_73928625del, NC_000015.10:g.73928623_73928625del, NC_000015.10:g.73928624_73928625del, NC_000015.10:g.73928625del, NC_000015.10:g.73928625dup, NC_000015.10:g.73928624_73928625dup, NC_000015.10:g.73928622_73928625dup, NC_000015.10:g.73928620_73928625dup, NC_000015.10:g.73928616_73928625dup, NC_000015.10:g.73928615_73928625dup, NC_000015.10:g.73928614_73928625dup, NC_000015.10:g.73928613_73928625dup, NC_000015.10:g.73928608_73928625dup, NC_000015.9:g.74220954_74220966del, NC_000015.9:g.74220955_74220966del, NC_000015.9:g.74220956_74220966del, NC_000015.9:g.74220957_74220966del, NC_000015.9:g.74220958_74220966del, NC_000015.9:g.74220959_74220966del, NC_000015.9:g.74220960_74220966del, NC_000015.9:g.74220961_74220966del, NC_000015.9:g.74220962_74220966del, NC_000015.9:g.74220963_74220966del, NC_000015.9:g.74220964_74220966del, NC_000015.9:g.74220965_74220966del, NC_000015.9:g.74220966del, NC_000015.9:g.74220966dup, NC_000015.9:g.74220965_74220966dup, NC_000015.9:g.74220963_74220966dup, NC_000015.9:g.74220961_74220966dup, NC_000015.9:g.74220957_74220966dup, NC_000015.9:g.74220956_74220966dup, NC_000015.9:g.74220955_74220966dup, NC_000015.9:g.74220954_74220966dup, NC_000015.9:g.74220949_74220966dup, NG_011466.1:g.7166_7178del, NG_011466.1:g.7167_7178del, NG_011466.1:g.7168_7178del, NG_011466.1:g.7169_7178del, NG_011466.1:g.7170_7178del, NG_011466.1:g.7171_7178del, NG_011466.1:g.7172_7178del, NG_011466.1:g.7173_7178del, NG_011466.1:g.7174_7178del, NG_011466.1:g.7175_7178del, NG_011466.1:g.7176_7178del, NG_011466.1:g.7177_7178del, NG_011466.1:g.7178del, NG_011466.1:g.7178dup, NG_011466.1:g.7177_7178dup, NG_011466.1:g.7175_7178dup, NG_011466.1:g.7173_7178dup, NG_011466.1:g.7169_7178dup, NG_011466.1:g.7168_7178dup, NG_011466.1:g.7167_7178dup, NG_011466.1:g.7166_7178dup, NG_011466.1:g.7161_7178dup
3.
rs1490851579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:73923529
(GRCh38)
15:74215870
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73923528:C:G,NC_000015.10:73923528:C:T
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
T=0.000142/2
(TOMMO)
- HGVS:
4.
rs1490805328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:73924531
(GRCh38)
15:74216872
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73924530:C:T
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490396190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:73930148
(GRCh38)
15:74222489
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73930147:A:C
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490315186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:73924998
(GRCh38)
15:74217339
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73924997:A:G
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490038098 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTTGG>-
[Show Flanks]
- Chromosome:
- 15:73930055
(GRCh38)
15:74222396
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73930054:TTTGG:
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000021/3
(GnomAD)
- HGVS:
8.
rs1489874213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:73928871
(GRCh38)
15:74221212
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73928870:A:C,NC_000015.10:73928870:A:G
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
G=0.000085/5
(GnomAD)
- HGVS:
10.
rs1489167376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:73917445
(GRCh38)
15:74209786
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73917444:A:G
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488592079 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:73922710
(GRCh38)
15:74215052
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73922710:A:AA
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488579824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:73917199
(GRCh38)
15:74209540
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73917198:G:A
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488552510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:73922947
(GRCh38)
15:74215288
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73922946:C:G
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1488303112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:73926979
(GRCh38)
15:74219320
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73926978:C:T
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000015.10:g.73926979C>T, NC_000015.9:g.74219320C>T, NG_011466.1:g.5532C>T, NM_005576.4:c.196C>T, NM_005576.3:c.196C>T, NM_005576.2:c.196C>T, XM_011521555.3:c.196C>T, XM_011521555.2:c.196C>T, XM_011521555.1:c.196C>T, XM_047432498.1:c.196C>T, NP_005567.2:p.Pro66Ser, XP_011519857.1:p.Pro66Ser, XP_047288454.1:p.Pro66Ser
15.
rs1487829268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:73917163
(GRCh38)
15:74209504
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73917162:G:A
- Gene:
- LOXL1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000139/2
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000093/13
(GnomAD)
- HGVS:
16.
rs1487770084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:73926655
(GRCh38)
15:74218996
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73926654:G:T
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1487111881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 15:73928627
(GRCh38)
15:74220968
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73928626:C:A,NC_000015.10:73928626:C:G
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
19.
rs1486951468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:73925121
(GRCh38)
15:74217462
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73925120:G:T
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486807811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGAG>-
[Show Flanks]
- Chromosome:
- 15:73928559
(GRCh38)
15:74220900
(GRCh37)
- Canonical SPDI:
- NC_000015.10:73928554:TGAGATGAG:TGAG
- Gene:
- LOXL1 (Varview), LOXL1-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS: