Links from Gene
Items: 1 to 20 of 796
1.
rs1491383734 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA
[Show Flanks]
- Chromosome:
- 2:109989377
(GRCh38)
2:110746955
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109989377::A,NC_000002.12:109989377::AA,NC_000002.12:109989377::ATA,NC_000002.12:109989377::ATATA,NC_000002.12:109989377::ATATATA,NC_000002.12:109989377::ATATATATA,NC_000002.12:109989377::ATATATATATA,NC_000002.12:109989377::ATATATATATATA
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.0687/18
(Korea1K)
- HGVS:
NC_000002.12:g.109989377_109989378insA, NC_000002.12:g.109989377_109989378insAA, NC_000002.12:g.109989377_109989378insATA, NC_000002.12:g.109989377_109989378insATATA, NC_000002.12:g.109989377_109989378insATATATA, NC_000002.12:g.109989377_109989378insATATATATA, NC_000002.12:g.109989377_109989378insATATATATATA, NC_000002.12:g.109989377_109989378insATATATATATATA, NC_000002.11:g.110746954_110746955insA, NC_000002.11:g.110746954_110746955insAA, NC_000002.11:g.110746954_110746955insATA, NC_000002.11:g.110746954_110746955insATATA, NC_000002.11:g.110746954_110746955insATATATA, NC_000002.11:g.110746954_110746955insATATATATA, NC_000002.11:g.110746954_110746955insATATATATATA, NC_000002.11:g.110746954_110746955insATATATATATATA
2.
rs1491223961 has merged into rs1231377281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:109989389
(GRCh38)
2:110746966
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
TTTTTT=0.04737/9
(Korea1K)
- HGVS:
NC_000002.12:g.109989389_109989397del, NC_000002.12:g.109989393_109989397del, NC_000002.12:g.109989394_109989397del, NC_000002.12:g.109989395_109989397del, NC_000002.12:g.109989396_109989397del, NC_000002.12:g.109989397del, NC_000002.12:g.109989397dup, NC_000002.12:g.109989396_109989397dup, NC_000002.12:g.109989395_109989397dup, NC_000002.12:g.109989394_109989397dup, NC_000002.12:g.109989393_109989397dup, NC_000002.12:g.109989392_109989397dup, NC_000002.12:g.109989391_109989397dup, NC_000002.12:g.109989389_109989397dup, NC_000002.12:g.109989388_109989397dup, NC_000002.12:g.109989387_109989397dup, NC_000002.12:g.109989382_109989397dup, NC_000002.11:g.110746966_110746974del, NC_000002.11:g.110746970_110746974del, NC_000002.11:g.110746971_110746974del, NC_000002.11:g.110746972_110746974del, NC_000002.11:g.110746973_110746974del, NC_000002.11:g.110746974del, NC_000002.11:g.110746974dup, NC_000002.11:g.110746973_110746974dup, NC_000002.11:g.110746972_110746974dup, NC_000002.11:g.110746971_110746974dup, NC_000002.11:g.110746970_110746974dup, NC_000002.11:g.110746969_110746974dup, NC_000002.11:g.110746968_110746974dup, NC_000002.11:g.110746966_110746974dup, NC_000002.11:g.110746965_110746974dup, NC_000002.11:g.110746964_110746974dup, NC_000002.11:g.110746959_110746974dup
3.
rs1490570927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:109994527
(GRCh38)
2:110752104
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109994526:C:T
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
T=0.00016/1
(1000Genomes)
T=0.00027/7
(GnomAD)
C=0.5/2
(SGDP_PRJ)
- HGVS:
4.
rs1490067896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:109989383
(GRCh38)
2:110746960
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109989382:T:A
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00082/13
(GnomAD)
A=0.00465/13
(TOMMO)
- HGVS:
6.
rs1489362714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:109985515
(GRCh38)
2:110743092
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109985514:G:A,NC_000002.12:109985514:G:C
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000114/14
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
7.
rs1488696186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:109985483
(GRCh38)
2:110743060
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109985482:A:C
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1488568893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:109986243
(GRCh38)
2:110743820
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109986242:A:C
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488560686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:109989381
(GRCh38)
2:110746958
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109989380:T:A
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00645/18
(TOMMO)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1486910005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:109994997
(GRCh38)
2:110752574
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109994996:A:G
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00034/4
(
ALFA)
G=0.00109/7
(1000Genomes)
G=0.00163/27
(GnomAD)
- HGVS:
15.
rs1485294118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:109994235
(GRCh38)
2:110751812
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109994234:G:A
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/4
(GnomAD)
A=0.000057/15
(TOPMED)
A=0.000354/6
(TOMMO)
A=0.002732/5
(Korea1K)
A=0.003097/9
(KOREAN)
- HGVS:
20.
rs1481527788 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:109994376
(GRCh38)
2:110751953
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109994375:G:
- Gene:
- LINC01123 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/1
(GnomAD)
-=0.000015/4
(TOPMED)
-=0.000781/5
(1000Genomes)
- HGVS: