Links from Gene
Items: 1 to 20 of 805
1.
rs1490437071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:25236445
(GRCh38)
15:25481592
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236444:C:A,NC_000015.10:25236444:C:T
- Gene:
- SNORD115-36 (Varview), SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
2.
rs1490157675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25236611
(GRCh38)
15:25481758
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236610:C:T
- Gene:
- SNORD115-36 (Varview), SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1486805597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25237063
(GRCh38)
15:25482210
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237062:G:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485846325 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 15:25236005
(GRCh38)
15:25481153
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236005::G
- Gene:
- SNORD115-36 (Varview), SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000093/13
(GnomAD)
- HGVS:
6.
rs1482085032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25237783
(GRCh38)
15:25482930
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237782:C:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
7.
rs1481570288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25237950
(GRCh38)
15:25483097
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237949:C:T
- Gene:
- SNORD115-37 (Varview), SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1481109305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:25236360
(GRCh38)
15:25481507
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236359:A:T
- Gene:
- SNORD115-36 (Varview), SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1476067480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCACATCCACAGTGGCAGGGTCTTG>-
[Show Flanks]
- Chromosome:
- 15:25237182
(GRCh38)
15:25482329
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237180:GTCACATCCACAGTGGCAGGGTCTTG:G
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1475730066 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 15:25236752
(GRCh38)
15:25481899
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236751:GGGGGG:GGGGG
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1475069857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25236968
(GRCh38)
15:25482115
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236967:G:A
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1472434063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25236017
(GRCh38)
15:25481164
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236016:C:T
- Gene:
- SNORD115-36 (Varview), SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1470981755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25236917
(GRCh38)
15:25482064
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236916:C:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1470632220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25237107
(GRCh38)
15:25482254
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237106:C:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
16.
rs1469977971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25236812
(GRCh38)
15:25481959
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236811:G:A
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1469050290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25237099
(GRCh38)
15:25482246
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237098:G:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1468541803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25236921
(GRCh38)
15:25482068
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25236920:G:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1468328023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:25237534
(GRCh38)
15:25482681
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25237533:C:A,NC_000015.10:25237533:C:T
- Gene:
- SNORD115-37 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1466263665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25238448
(GRCh38)
15:25483595
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25238447:G:A
- Gene:
- SNORD115-37 (Varview), SNORD115-38 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: