Links from Gene
Items: 1 to 20 of 3849
3.
rs1491541184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:203770545
(GRCh38)
1:203739673
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770543:AGA:A
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00018/2
(TOMMO)
- HGVS:
4.
rs1491401032 has merged into rs1317078482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAAA,AAGAAA,AAGAAAGAAA
[Show Flanks]
- Chromosome:
- 1:203770511
(GRCh38)
1:203739639
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770510:AA:A,NC_000001.11:203770510:AA:AAA,NC_000001.11:203770510:AA:AAAAA,NC_000001.11:203770510:AA:AAAGAAA,NC_000001.11:203770510:AA:AAAGAAAGAAA
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AAA=0.00358/61
(TOMMO)
- HGVS:
5.
rs1491394443 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:203769774
(GRCh38)
1:203738903
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203769774::C
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00004/3
(GnomAD)
- HGVS:
6.
rs1491383036 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:203767962
(GRCh38)
1:203737090
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203767961:AT:
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000038/5
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
7.
rs1491352911 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 1:203770432
(GRCh38)
1:203739561
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770432::G,NC_000001.11:203770432::GAGAGAGAGAGAG
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00722/11
(Korea1K)
G=0.00913/128
(TOMMO)
G=0.06905/1754
(GnomAD)
- HGVS:
8.
rs1491254220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:203770568
(GRCh38)
1:203739697
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770568:G:GG
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491244088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:203770433
(GRCh38)
1:203739561
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770431:AAA:A
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00185/37
(GnomAD)
-=0.00272/38
(TOMMO)
-=0.00594/9
(Korea1K)
- HGVS:
10.
rs1491242504 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:203770510
(GRCh38)
1:203739638
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770509:GA:
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
11.
rs1491239759 has merged into rs1311215813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 1:203769783
(GRCh38)
1:203738911
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.203769783_203769784del, NC_000001.11:g.203769784del, NC_000001.11:g.203769784dup, NC_000001.11:g.203769783_203769784dup, NC_000001.11:g.203769782_203769784dup, NC_000001.11:g.203769781_203769784dup, NC_000001.11:g.203769780_203769784dup, NC_000001.11:g.203769779_203769784dup, NC_000001.11:g.203769778_203769784dup, NC_000001.11:g.203769777_203769784dup, NC_000001.11:g.203769776_203769784dup, NC_000001.11:g.203769775_203769784dup, NC_000001.11:g.203769774_203769784dup, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGG, NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGGG, NC_000001.10:g.203738911_203738912del, NC_000001.10:g.203738912del, NC_000001.10:g.203738912dup, NC_000001.10:g.203738911_203738912dup, NC_000001.10:g.203738910_203738912dup, NC_000001.10:g.203738909_203738912dup, NC_000001.10:g.203738908_203738912dup, NC_000001.10:g.203738907_203738912dup, NC_000001.10:g.203738906_203738912dup, NC_000001.10:g.203738905_203738912dup, NC_000001.10:g.203738904_203738912dup, NC_000001.10:g.203738903_203738912dup, NC_000001.10:g.203738902_203738912dup, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGG, NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGGG
12.
rs1491157801 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:203769442
(GRCh38)
1:203738570
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203769441:AA:
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00043/37
(GnomAD)
- HGVS:
13.
rs1491103340 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAA
[Show Flanks]
- Chromosome:
- 1:203770544
(GRCh38)
1:203739673
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770544:GAA:GAAGGAA
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GAAG=0.00225/3
(Korea1K)
GAAG=0.00683/78
(TOMMO)
- HGVS:
14.
rs1491099529 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 1:203770455
(GRCh38)
1:203739583
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203770453:AAA:A,NC_000001.11:203770453:AAA:AA,NC_000001.11:203770453:AAA:AAAA
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.0004/5
(TOMMO)
-=0.00107/23
(GnomAD)
-=0.00142/2
(Korea1K)
- HGVS:
15.
rs1491074041 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:203769443
(GRCh38)
1:203738571
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203769442:AG:
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000018/1
(GnomAD)
- HGVS:
16.
rs1490802933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:203777081
(GRCh38)
1:203746209
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203777080:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490716126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:203778341
(GRCh38)
1:203747469
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203778340:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
18.
rs1490687335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:203777270
(GRCh38)
1:203746398
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203777269:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490661540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:203763393
(GRCh38)
1:203732521
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203763392:A:G
- Gene:
- LAX1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1490311777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203777596
(GRCh38)
1:203746724
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203777595:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS: