Links from Gene
Items: 1 to 20 of 1000
3.
rs1490938264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:63043413
(GRCh38)
20:61674765
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63043412:C:A
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
4.
rs1490869451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:63049710
(GRCh38)
20:61681062
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63049709:G:C
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490842225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:63050545
(GRCh38)
20:61681897
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63050544:C:G
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490228709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 20:63039820
(GRCh38)
20:61671172
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63039819:T:C,NC_000020.11:63039819:T:G
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
8.
rs1490206280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGCAC>-
[Show Flanks]
- Chromosome:
- 20:63037954
(GRCh38)
20:61669306
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63037949:GCACGGCAC:GCAC
- Gene:
- LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489854282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:63053214
(GRCh38)
20:61684566
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63053213:C:A
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000122/2
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000036/5
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
10.
rs1489838865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63051098
(GRCh38)
20:61682450
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63051097:C:T
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD)
- HGVS:
11.
rs1489819279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:63037254
(GRCh38)
20:61668606
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63037253:C:G,NC_000020.11:63037253:C:T
- Gene:
- LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
12.
rs1489723759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 20:63043934
(GRCh38)
20:61675286
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63043933:C:A,NC_000020.11:63043933:C:G,NC_000020.11:63043933:C:T
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00251/42
(TOMMO)
G=0.02053/60
(KOREAN)
- HGVS:
13.
rs1489273351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63042060
(GRCh38)
20:61673412
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63042059:G:A
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489218659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63046807
(GRCh38)
20:61678159
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63046806:A:G
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488972793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63050356
(GRCh38)
20:61681708
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63050355:A:G
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488928856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63048734
(GRCh38)
20:61680086
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63048733:C:T
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1488903354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAACTAGGA
[Show Flanks]
- Chromosome:
- 20:63036490
(GRCh38)
20:61667843
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63036490:TAACTAGGA:TAACTAGGATAACTAGGA
- Gene:
- LINC01749 (Varview), LINC00029 (Varview), LINC01056 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAACTAGGATAACTAGGA=0./0
(
ALFA)
TAACTAGGA=0.000011/3
(TOPMED)
TAACTAGGA=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488774423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:63049832
(GRCh38)
20:61681184
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63049831:T:G
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
- HGVS:
19.
rs1488661433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:63049216
(GRCh38)
20:61680568
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63049215:T:C
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00017/2
(
ALFA)
T=0.5/2
(SGDP_PRJ)
- HGVS:
20.
rs1487959813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:63053944
(GRCh38)
20:61685296
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63053943:G:C
- Gene:
- LINC01749 (Varview), LINC01056 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000043/6
(GnomAD)
C=0.000053/14
(TOPMED)
- HGVS: