Links from Gene
Items: 1 to 20 of 2008
1.
rs1490908518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 21:41147322
(GRCh38)
21:42519249
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41147321:G:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490590929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41148725
(GRCh38)
21:42520652
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41148724:C:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
3.
rs1490384782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 21:41141420
(GRCh38)
21:42513347
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41141419:C:A,NC_000021.9:41141419:C:G
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489924456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 21:41149086
(GRCh38)
21:42521013
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41149085:C:A,NC_000021.9:41149085:C:G,NC_000021.9:41149085:C:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489814188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:41143711
(GRCh38)
21:42515638
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41143710:A:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489448797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41143338
(GRCh38)
21:42515265
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41143337:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000156/1
(1000Genomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
8.
rs1489086193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41144685
(GRCh38)
21:42516612
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41144684:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000045/12
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
9.
rs1486266700 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 21:41149525
(GRCh38)
21:42521452
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41149519:AGAAGAAG:AGAAG
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAG=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000068/18
(TOPMED)
-=0.000177/3
(TOMMO)
- HGVS:
10.
rs1486197321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:41141065
(GRCh38)
21:42512992
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41141064:C:G,NC_000021.9:41141064:C:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1486176841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41141361
(GRCh38)
21:42513288
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41141360:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485921049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:41145612
(GRCh38)
21:42517539
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41145611:A:G
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
13.
rs1485134337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 21:41142461
(GRCh38)
21:42514389
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41142461:T:TT
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484976040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:41142568
(GRCh38)
21:42514495
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41142567:A:G
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484938408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 21:41145979
(GRCh38)
21:42517906
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41145978:G:A,NC_000021.9:41145978:G:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000849/14
(TOMMO)
- HGVS:
16.
rs1484886942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41147022
(GRCh38)
21:42518949
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41147021:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1483722470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41143263
(GRCh38)
21:42515190
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41143262:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483346806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 21:41147526
(GRCh38)
21:42519453
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41147525:T:C,NC_000021.9:41147525:T:G
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0./0
(GnomAD)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1483033683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:41145806
(GRCh38)
21:42517733
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41145805:C:T
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
20.
rs1483004181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:41147788
(GRCh38)
21:42519715
(GRCh37)
- Canonical SPDI:
- NC_000021.9:41147787:G:A
- Gene:
- LINC00323 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000045/12
(TOPMED)
A=0.000071/10
(GnomAD)
- HGVS: