Links from Gene
Items: 1 to 20 of 859
1.
rs1490530996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25225400
(GRCh38)
15:25470547
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25225399:T:C
- Gene:
- SNORD115-30 (Varview), SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490350890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 15:25227125
(GRCh38)
15:25472272
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25227124:C:A,NC_000015.10:25227124:C:G
- Gene:
- SNORD115-31 (Varview), SNORD115-32 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489483912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:25226790
(GRCh38)
15:25471937
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226789:A:C
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
4.
rs1487148583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:25225951
(GRCh38)
15:25471098
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25225950:T:G
- Gene:
- SNORD115-31 (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=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1485250160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25225623
(GRCh38)
15:25470770
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25225622:T:C
- Gene:
- SNORD115-30 (Varview), SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
6.
rs1484075038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25226665
(GRCh38)
15:25471812
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226664:G:A
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000142/2
(TOMMO)
- HGVS:
7.
rs1483814909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:25227111
(GRCh38)
15:25472258
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25227110:G:A,NC_000015.10:25227110:G:T
- Gene:
- SNORD115-31 (Varview), SNORD115-32 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1482432421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25226024
(GRCh38)
15:25471171
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226023:A:G
- Gene:
- SNORD115-31 (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=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
9.
rs1481275743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:25225925
(GRCh38)
15:25471072
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25225924:T:A,NC_000015.10:25225924:T:C
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1478543435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25226580
(GRCh38)
15:25471727
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226579:G:A
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1475110029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:25227538
(GRCh38)
15:25472685
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25227537:T:A
- Gene:
- SNORD115-31 (Varview), SNORD115-32 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1474817541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25226304
(GRCh38)
15:25471451
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226303:G:A
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1474194866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:25226365
(GRCh38)
15:25471512
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226364:C:G,NC_000015.10:25226364:C:T
- Gene:
- SNORD115-31 (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)
G=0.000029/4
(GnomAD)
- HGVS:
15.
rs1473622322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:25226550
(GRCh38)
15:25471697
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226549:G:A,NC_000015.10:25226549:G:T
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
17.
rs1473327672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25226853
(GRCh38)
15:25472000
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226852:C:T
- Gene:
- SNORD115-31 (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:
18.
rs1472556298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25225451
(GRCh38)
15:25470598
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25225450:G:A
- Gene:
- SNORD115-30 (Varview), SNORD115-31 (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=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1471846361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:25226340
(GRCh38)
15:25471487
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25226339:C:A
- Gene:
- SNORD115-31 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
20.
rs1470890277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25227583
(GRCh38)
15:25472730
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25227582:C:T
- Gene:
- SNORD115-31 (Varview), SNORD115-32 (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: