Links from Gene
Items: 1 to 20 of 1660
1.
rs1490944605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:37901925
(GRCh38)
14:38371131
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37901925:A:AA
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490503513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37903513
(GRCh38)
14:38372718
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37903512:G:A
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
4.
rs1490086329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37895880
(GRCh38)
14:38365085
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37895879:T:C
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
5.
rs1489409007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37896475
(GRCh38)
14:38365680
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37896474:G:A
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489252302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:37901168
(GRCh38)
14:38370373
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37901167:G:T
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489009711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:37896585
(GRCh38)
14:38365790
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37896584:C:T
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_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:
9.
rs1488528278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:37898107
(GRCh38)
14:38367312
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37898106:T:C,NC_000014.9:37898106:T:G
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488307338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:37898243
(GRCh38)
14:38367448
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37898242:A:C,NC_000014.9:37898242:A:G
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488275049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:37899988
(GRCh38)
14:38369193
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37899987:A:G
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487754709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37897356
(GRCh38)
14:38366561
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37897355:T:C
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
13.
rs1487684976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:37901789
(GRCh38)
14:38370994
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37901788:T:A
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000248/4
(TOMMO)
A=0.000342/1
(KOREAN)
- HGVS:
14.
rs1487543509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:37898637
(GRCh38)
14:38367842
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37898636:C:T
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_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:
15.
rs1487441283 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:37897617
(GRCh38)
14:38366822
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37897615:TAT:T
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486227100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37897633
(GRCh38)
14:38366838
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37897632:G:A
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485589231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37899802
(GRCh38)
14:38369007
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37899801:G:A
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1485486906 has merged into rs946229812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 14:37898620
(GRCh38)
14:38367825
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37898619:TTTTTTTT:TTTTTTT,NC_000014.9:37898619:TTTTTTTT:TTTTTTTTT
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0.00054/10
(
ALFA)
-=0.000321/45
(GnomAD)
-=0.002232/10
(Estonian)
- HGVS:
20.
rs1484766037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:37901380
(GRCh38)
14:38370585
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37901379:T:G
- Gene:
- LINC00517 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: