Links from Gene
Items: 1 to 20 of 844
2.
rs1486680067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:25193144
(GRCh38)
15:25438291
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193143:G:A,NC_000015.10:25193143:G:T
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485928927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:25195058
(GRCh38)
15:25440205
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25195057:C:A
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000162/3
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000446/2
(Estonian)
- HGVS:
4.
rs1485667744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:25194060
(GRCh38)
15:25439207
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25194059:G:A,NC_000015.10:25194059:G:T
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1485616123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 15:25194732
(GRCh38)
15:25439879
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25194731:GGG:GG
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1485277156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:25193550
(GRCh38)
15:25438697
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193549:G:A,NC_000015.10:25193549:G:C
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (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)
A=0./0
(GnomAD)
- HGVS:
7.
rs1484228930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25193020
(GRCh38)
15:25438167
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193019:C:T
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (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=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483640089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25195154
(GRCh38)
15:25440301
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25195153:C:T
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1482728085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:25193208
(GRCh38)
15:25438355
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193207:C:G
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1478795655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25195146
(GRCh38)
15:25440293
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25195145:C:T
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
T=0.001168/20
(TOMMO)
- HGVS:
14.
rs1478685210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25194401
(GRCh38)
15:25439548
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25194400:C:T
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1478354921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25194723
(GRCh38)
15:25439870
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25194722:C:T
- Gene:
- SNORD115-14 (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:
16.
rs1477328054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25195105
(GRCh38)
15:25440252
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25195104:G:C
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
17.
rs1476719710 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:25195093
(GRCh38)
15:25440240
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25195092:A:
- Gene:
- SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
18.
rs1475771170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25193444
(GRCh38)
15:25438591
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193443:G:A
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (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=0.000004/1
(TOPMED)
- HGVS:
19.
rs1475420205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:25193812
(GRCh38)
15:25438959
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193811:A:T
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (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:
20.
rs1475411110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:25193292
(GRCh38)
15:25438439
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25193291:C:G
- Gene:
- SNORD115-13 (Varview), SNORD115-14 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: