Links from Gene
Items: 1 to 20 of 681
1.
rs1489957527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:83523140
(GRCh38)
2:83750264
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83523139:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489693690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:83520863
(GRCh38)
2:83747987
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83520862:C:T
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1486918444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:83521812
(GRCh38)
2:83748936
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83521811:T:C,NC_000002.12:83521811:T:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1486858071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:83522641
(GRCh38)
2:83749765
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522640:G:A
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1486658991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:83522969
(GRCh38)
2:83750093
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522968:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000057/15
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
6.
rs1484932931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:83521917
(GRCh38)
2:83749041
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83521916:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
7.
rs1484328397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:83523656
(GRCh38)
2:83750780
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83523655:T:C
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1479704077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:83522998
(GRCh38)
2:83750122
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522997:C:G,NC_000002.12:83522997:C:T
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1477111614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:83523001
(GRCh38)
2:83750125
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83523000:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- 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:
11.
rs1476474867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:83521923
(GRCh38)
2:83749047
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83521922:A:T
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
12.
rs1476458340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:83522399
(GRCh38)
2:83749523
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522398:C:T
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1475613561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:83521662
(GRCh38)
2:83748786
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83521661:A:C,NC_000002.12:83521661:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
14.
rs1474947633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:83523836
(GRCh38)
2:83750960
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83523835:T:A,NC_000002.12:83523835:T:C
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
15.
rs1474162799 has merged into rs1167067598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:83522506
(GRCh38)
2:83749630
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.83522506_83522524del, NC_000002.12:g.83522507_83522524del, NC_000002.12:g.83522508_83522524del, NC_000002.12:g.83522509_83522524del, NC_000002.12:g.83522510_83522524del, NC_000002.12:g.83522511_83522524del, NC_000002.12:g.83522512_83522524del, NC_000002.12:g.83522513_83522524del, NC_000002.12:g.83522514_83522524del, NC_000002.12:g.83522515_83522524del, NC_000002.12:g.83522516_83522524del, NC_000002.12:g.83522517_83522524del, NC_000002.12:g.83522518_83522524del, NC_000002.12:g.83522519_83522524del, NC_000002.12:g.83522520_83522524del, NC_000002.12:g.83522521_83522524del, NC_000002.12:g.83522522_83522524del, NC_000002.12:g.83522523_83522524del, NC_000002.12:g.83522524del, NC_000002.12:g.83522524dup, NC_000002.12:g.83522523_83522524dup, NC_000002.12:g.83522522_83522524dup, NC_000002.12:g.83522521_83522524dup, NC_000002.12:g.83522520_83522524dup, NC_000002.12:g.83522519_83522524dup, NC_000002.12:g.83522518_83522524dup, NC_000002.12:g.83522517_83522524dup, NC_000002.12:g.83522516_83522524dup, NC_000002.12:g.83522515_83522524dup, NC_000002.12:g.83522514_83522524dup, NC_000002.12:g.83522513_83522524dup, NC_000002.12:g.83522512_83522524dup, NC_000002.12:g.83522511_83522524dup, NC_000002.12:g.83522510_83522524dup, NC_000002.12:g.83522509_83522524dup, NC_000002.12:g.83522508_83522524dup, NC_000002.12:g.83522507_83522524dup, NC_000002.12:g.83522506_83522524dup, NC_000002.12:g.83522505_83522524dup, NC_000002.12:g.83522504_83522524dup, NC_000002.12:g.83522503_83522524dup, NC_000002.12:g.83522502_83522524dup, NC_000002.12:g.83522500_83522524dup, NC_000002.11:g.83749630_83749648del, NC_000002.11:g.83749631_83749648del, NC_000002.11:g.83749632_83749648del, NC_000002.11:g.83749633_83749648del, NC_000002.11:g.83749634_83749648del, NC_000002.11:g.83749635_83749648del, NC_000002.11:g.83749636_83749648del, NC_000002.11:g.83749637_83749648del, NC_000002.11:g.83749638_83749648del, NC_000002.11:g.83749639_83749648del, NC_000002.11:g.83749640_83749648del, NC_000002.11:g.83749641_83749648del, NC_000002.11:g.83749642_83749648del, NC_000002.11:g.83749643_83749648del, NC_000002.11:g.83749644_83749648del, NC_000002.11:g.83749645_83749648del, NC_000002.11:g.83749646_83749648del, NC_000002.11:g.83749647_83749648del, NC_000002.11:g.83749648del, NC_000002.11:g.83749648dup, NC_000002.11:g.83749647_83749648dup, NC_000002.11:g.83749646_83749648dup, NC_000002.11:g.83749645_83749648dup, NC_000002.11:g.83749644_83749648dup, NC_000002.11:g.83749643_83749648dup, NC_000002.11:g.83749642_83749648dup, NC_000002.11:g.83749641_83749648dup, NC_000002.11:g.83749640_83749648dup, NC_000002.11:g.83749639_83749648dup, NC_000002.11:g.83749638_83749648dup, NC_000002.11:g.83749637_83749648dup, NC_000002.11:g.83749636_83749648dup, NC_000002.11:g.83749635_83749648dup, NC_000002.11:g.83749634_83749648dup, NC_000002.11:g.83749633_83749648dup, NC_000002.11:g.83749632_83749648dup, NC_000002.11:g.83749631_83749648dup, NC_000002.11:g.83749630_83749648dup, NC_000002.11:g.83749629_83749648dup, NC_000002.11:g.83749628_83749648dup, NC_000002.11:g.83749627_83749648dup, NC_000002.11:g.83749626_83749648dup, NC_000002.11:g.83749624_83749648dup
16.
rs1473110467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:83522525
(GRCh38)
2:83749649
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522524:G:T
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.0019/29
(TOMMO)
T=0.05292/154
(KOREAN)
- HGVS:
17.
rs1471685808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 2:83523237
(GRCh38)
2:83750361
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83523236:T:A,NC_000002.12:83523236:T:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1470962884 has merged into rs1167067598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:83522506
(GRCh38)
2:83749630
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:83522496:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.83522506_83522524del, NC_000002.12:g.83522507_83522524del, NC_000002.12:g.83522508_83522524del, NC_000002.12:g.83522509_83522524del, NC_000002.12:g.83522510_83522524del, NC_000002.12:g.83522511_83522524del, NC_000002.12:g.83522512_83522524del, NC_000002.12:g.83522513_83522524del, NC_000002.12:g.83522514_83522524del, NC_000002.12:g.83522515_83522524del, NC_000002.12:g.83522516_83522524del, NC_000002.12:g.83522517_83522524del, NC_000002.12:g.83522518_83522524del, NC_000002.12:g.83522519_83522524del, NC_000002.12:g.83522520_83522524del, NC_000002.12:g.83522521_83522524del, NC_000002.12:g.83522522_83522524del, NC_000002.12:g.83522523_83522524del, NC_000002.12:g.83522524del, NC_000002.12:g.83522524dup, NC_000002.12:g.83522523_83522524dup, NC_000002.12:g.83522522_83522524dup, NC_000002.12:g.83522521_83522524dup, NC_000002.12:g.83522520_83522524dup, NC_000002.12:g.83522519_83522524dup, NC_000002.12:g.83522518_83522524dup, NC_000002.12:g.83522517_83522524dup, NC_000002.12:g.83522516_83522524dup, NC_000002.12:g.83522515_83522524dup, NC_000002.12:g.83522514_83522524dup, NC_000002.12:g.83522513_83522524dup, NC_000002.12:g.83522512_83522524dup, NC_000002.12:g.83522511_83522524dup, NC_000002.12:g.83522510_83522524dup, NC_000002.12:g.83522509_83522524dup, NC_000002.12:g.83522508_83522524dup, NC_000002.12:g.83522507_83522524dup, NC_000002.12:g.83522506_83522524dup, NC_000002.12:g.83522505_83522524dup, NC_000002.12:g.83522504_83522524dup, NC_000002.12:g.83522503_83522524dup, NC_000002.12:g.83522502_83522524dup, NC_000002.12:g.83522500_83522524dup, NC_000002.11:g.83749630_83749648del, NC_000002.11:g.83749631_83749648del, NC_000002.11:g.83749632_83749648del, NC_000002.11:g.83749633_83749648del, NC_000002.11:g.83749634_83749648del, NC_000002.11:g.83749635_83749648del, NC_000002.11:g.83749636_83749648del, NC_000002.11:g.83749637_83749648del, NC_000002.11:g.83749638_83749648del, NC_000002.11:g.83749639_83749648del, NC_000002.11:g.83749640_83749648del, NC_000002.11:g.83749641_83749648del, NC_000002.11:g.83749642_83749648del, NC_000002.11:g.83749643_83749648del, NC_000002.11:g.83749644_83749648del, NC_000002.11:g.83749645_83749648del, NC_000002.11:g.83749646_83749648del, NC_000002.11:g.83749647_83749648del, NC_000002.11:g.83749648del, NC_000002.11:g.83749648dup, NC_000002.11:g.83749647_83749648dup, NC_000002.11:g.83749646_83749648dup, NC_000002.11:g.83749645_83749648dup, NC_000002.11:g.83749644_83749648dup, NC_000002.11:g.83749643_83749648dup, NC_000002.11:g.83749642_83749648dup, NC_000002.11:g.83749641_83749648dup, NC_000002.11:g.83749640_83749648dup, NC_000002.11:g.83749639_83749648dup, NC_000002.11:g.83749638_83749648dup, NC_000002.11:g.83749637_83749648dup, NC_000002.11:g.83749636_83749648dup, NC_000002.11:g.83749635_83749648dup, NC_000002.11:g.83749634_83749648dup, NC_000002.11:g.83749633_83749648dup, NC_000002.11:g.83749632_83749648dup, NC_000002.11:g.83749631_83749648dup, NC_000002.11:g.83749630_83749648dup, NC_000002.11:g.83749629_83749648dup, NC_000002.11:g.83749628_83749648dup, NC_000002.11:g.83749627_83749648dup, NC_000002.11:g.83749626_83749648dup, NC_000002.11:g.83749624_83749648dup
19.
rs1468565939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:83522508
(GRCh38)
2:83749632
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83522507:T:C
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1467675441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:83521552
(GRCh38)
2:83748676
(GRCh37)
- Canonical SPDI:
- NC_000002.12:83521551:A:G
- Gene:
- LINC01809 (Varview), LOC105374834 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS: