Links from Gene
Items: 1 to 20 of 1000
1.
rs1490676161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACGTCCCCCTCAC>-,GACGTCCCCCTCACGACGTCCCCCTCAC
[Show Flanks]
- Chromosome:
- 13:110813621
(GRCh38)
13:111465968
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813601:CTCACGACGTCCCCCTCACGACGTCCCCCTCAC:CTCACGACGTCCCCCTCAC,NC_000013.11:110813601:CTCACGACGTCCCCCTCACGACGTCCCCCTCAC:CTCACGACGTCCCCCTCACGACGTCCCCCTCACGACGTCCCCCTCAC
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCACGACGTCCCCCTCACGACGTCCCCCTCACGACGTCCCCCTCAC=0.00006/1
(
ALFA)
-=0.00759/126
(TOMMO)
-=0.00986/18
(Korea1K)
- HGVS:
2.
rs1490380681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:110813083
(GRCh38)
13:111465430
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813082:T:C
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00641/76
(
ALFA)
C=0.00962/28
(KOREAN)
- HGVS:
3.
rs1489833764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:110813294
(GRCh38)
13:111465641
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813293:T:A
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487123956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTCACCACGCTCCCCCCTCACGACGTCCCC>-
[Show Flanks]
- Chromosome:
- 13:110813558
(GRCh38)
13:111465905
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813538:CCCCCCTCACGACGTCCCCGTCACCACGCTCCCCCCTCACGACGTCCCC:CCCCCCTCACGACGTCCCC
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCCTCACGACGTCCCC=0./0
(
ALFA)
- HGVS:
5.
rs1486476786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:110810544
(GRCh38)
13:111462891
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110810543:G:A
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1486158011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:110813036
(GRCh38)
13:111465383
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813035:C:T
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486011419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:110809880
(GRCh38)
13:111462227
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110809879:T:C
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485936265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:110809409
(GRCh38)
13:111461756
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110809408:C:T
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
10.
rs1485883278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:110810831
(GRCh38)
13:111463178
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110810830:T:G
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1485153298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:110814137
(GRCh38)
13:111466484
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110814136:A:G
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1484525246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:110811507
(GRCh38)
13:111463854
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110811506:A:G
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1484091471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:110811944
(GRCh38)
13:111464291
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110811943:G:A
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484042366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:110810764
(GRCh38)
13:111463111
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110810763:T:A
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483967570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:110810463
(GRCh38)
13:111462810
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110810462:T:C
- Gene:
- LINC00567 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1483939626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:110814445
(GRCh38)
13:111466792
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110814444:G:T
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1483185208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:110815073
(GRCh38)
13:111467420
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110815072:T:G
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483050593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:110813091
(GRCh38)
13:111465438
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110813090:C:T
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1482823545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:110812807
(GRCh38)
13:111465154
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110812806:A:T
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482052755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:110814257
(GRCh38)
13:111466604
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110814256:G:C
- Gene:
- LINC00567 (Varview), LOC105370362 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: