Links from Gene
Items: 1 to 20 of 2192
1.
rs1491319324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:67799627
(GRCh38)
5:67095455
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67799625:TGT:T
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
2.
rs1491154271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:67799626
(GRCh38)
5:67095455
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67799626:G:GG
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000254/29
(GnomAD)
- HGVS:
3.
rs1491120804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTC
[Show Flanks]
- Chromosome:
- 5:67794159
(GRCh38)
5:67089988
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67794159:TC:TCGTC
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCGTC=0./0
(
ALFA)
TCG=0./0
(GnomAD)
TCG=0.000026/7
(TOPMED)
- HGVS:
4.
rs1490323961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 5:67795922
(GRCh38)
5:67091750
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67795921:C:A,NC_000005.10:67795921:C:G
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489858065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67794330
(GRCh38)
5:67090158
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67794329:A:G
- Gene:
- LINC02997 (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:
6.
rs1489831915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67795462
(GRCh38)
5:67091290
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67795461:A:G
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
7.
rs1488993085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67791951
(GRCh38)
5:67087779
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67791950:T:C
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
8.
rs1488886399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:67794927
(GRCh38)
5:67090755
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67794926:T:G
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
9.
rs1488072783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:67801437
(GRCh38)
5:67097265
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67801436:T:A
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487892639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67793800
(GRCh38)
5:67089628
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67793799:T:C
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1487687207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67801349
(GRCh38)
5:67097177
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67801348:T:C
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487521175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:67794059
(GRCh38)
5:67089887
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67794058:C:A,NC_000005.10:67794058:C:T
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000486/9
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.001786/8
(Estonian)
- HGVS:
13.
rs1487312791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:67793348
(GRCh38)
5:67089176
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67793347:T:C
- Gene:
- LINC02997 (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:
14.
rs1486668411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:67795228
(GRCh38)
5:67091056
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67795227:C:T
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486372149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67796062
(GRCh38)
5:67091890
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67796061:A:G
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1486111836 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTT
[Show Flanks]
- Chromosome:
- 5:67800649
(GRCh38)
5:67096478
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67800649:CCTT:CCTTCCTT
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCTTCCTT=0./0
(
ALFA)
CCTT=0.000008/2
(TOPMED)
- HGVS:
18.
rs1486012630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:67791532
(GRCh38)
5:67087360
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67791531:A:G
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1485725318 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:67800511
(GRCh38)
5:67096340
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67800511:AAAAAA:AAAAAAA
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1485383116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:67792347
(GRCh38)
5:67088175
(GRCh37)
- Canonical SPDI:
- NC_000005.10:67792346:G:A
- Gene:
- LINC02997 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS: